(used for variant description)
(last modified October 15, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001164694.1 in the IYD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering IYD transcript NM_001164694.1.
(upstream sequence)
. . g.5020
gaagagttctgcactttgtt c.-121
. . . . . . g.5080
ccttccctggcacacctgtgtctgcattccttctatctcccggcattctccactcctgtc c.-61
. . . . . . g.5140
tctgtgtgtttaaaaaccggtgtgggaagtgtgcacgcctgtgacgtcagactccagacc c.-1
. . . . . . g.5200
ATGTATTTCCTGACTCCCATCTTGGTAGCCATTCTCTGCATTTTGGTTGTGTGGATCTTT c.60
M Y F L T P I L V A I L C I L V V W I F p.20
. . . . . . g.5260
AAAAATGCCGACAGAAGCATGGAGAAAAAGAAGGGGGAGCCTAGAACCAGGGCCGAAGCT c.120
K N A D R S M E K K K G E P R T R A E A p.40
. . . . . | 02 g.25462
CGCCCCTGGGTGGATGAAGACTTAAAAGACAGCAGTGACCTGCACCAAGCAGAAGAAG | AT c.180
R P W V D E D L K D S S D L H Q A E E D | p.60
. . . . . . g.25522
GCTGATGAATGGCAAGAATCAGAAGAAAATGTTGAACACATCCCCTTCTCTCATAACCAC c.240
A D E W Q E S E E N V E H I P F S H N H p.80
. . . . . . g.25582
TATCCTGAGAAGGAAATGGTTAAGAGGTCTCAGGAATTTTATGAACTTCTCAATAAGAGA c.300
Y P E K E M V K R S Q E F Y E L L N K R p.100
. . . . . . g.25642
CGGTCAGTCAGGTTCATAAGTAATGAGCAAGTCCCAATGGAAGTCATTGATAATGTCATC c.360
R S V R F I S N E Q V P M E V I D N V I p.120
. | 03 . . . . . g.28503
AGAACGGCAG | GAACAGCCCCGAGTGGGGCTCACACAGAGCCCTGGACCTTCGTGGTTGTG c.420
R T A G | T A P S G A H T E P W T F V V V p.140
. . . . . . g.28563
AAGGACCCAGACGTGAAGCACAAGATTCGAAAGATCATTGAGGAGGAAGAGGAGATCAAC c.480
K D P D V K H K I R K I I E E E E E I N p.160
. . . . . | 04 . g.30217
TACATGAAAAGGATGGGACATCGCTGGGTCACAGACCTCAAGAAACTGAG | AACCAACTGG c.540
Y M K R M G H R W V T D L K K L R | T N W p.180
. . . . . . g.30277
ATTAAAGAGTACTTGGATACTGCCCCTATTTTGATTCTCATTTTCAAACAAGTACATGGT c.600
I K E Y L D T A P I L I L I F K Q V H G p.200
. . . . . . g.30337
TTCGCCGCAAATGGCAAGAAAAAAGTCCACTACTACAATGAGATCAGTGTTTCCATCGCT c.660
F A A N G K K K V H Y Y N E I S V S I A p.220
. . | 05. . . . g.31596
TGTGGCATCCTGCTAGCTGCCCTGCAG | GTAAATAATGGAATCACCATGCGGCATCAGACT c.720
C G I L L A A L Q | V N N G I T M R H Q T p.240
. . . . . . g.31656
GCGAGGCACCGCCACCTGATTGAGGGTCCTGGAAGAAGCAGCGAAGCCTGCAGCAAGCTC c.780
A R H R H L I E G P G R S S E A C S K L p.260
. | 06 . . . . g.34204
AGCTCACAAGGCTGCCCAG | AATGCAGGTCTGGTGACTGTCACTACCACTCCTCTCAACTG c.840
S S Q G C P E | C R S G D C H Y H S S Q L p.280
. . . . g.34246
TGGCCCTCGACTGAGGGTGCTCCTGGGCCGCCCCGCACATGA c.882
W P S T E G A P G P P R T X p.293
. . . . . . g.34306
aaagctgctgatgctgctccccgtggggtaccccagcaaggaggccacggtgcctgacct c.*60
. . . . . . g.34366
caagcgcaaacctctggaccagatcatggtgacagtgtaggcagggccccccaagggagt c.*120
. . . . . . g.34426
ggcagggagatggcgcccctgcttttccctgagcctctcgcctgctcctcttgggtctct c.*180
. . . . . . g.34486
tggctgctctttctccaggtgtcaggtcccctcattgctcttctcaggtggccacactat c.*240
. . . . . . g.34546
gtcaagaagcctctccacactctgtggcacttccagtcccataaatcctgtttcttatcc c.*300
. . . . . . g.34606
actttggaaatgcatgaacactttacaaagaacatgcccgggtttttacattttaaaagt c.*360
. . . . . . g.34666
tattctagacaatcactattggcttttttcttttatttttaaaaaactcacatagaggag c.*420
. . . . . . g.34726
acaatcagaaatttaccatagtcccaagaattcagctacatgatgactcgaatttaaatt c.*480
. . . . . . g.34786
tagattaatcaaatggtctcctgttctctgatttctggtggcttttagacactaattttt c.*540
. . . . . . g.34846
gagaactacttttttttttttaccaaacttcagggacactctgctagttttgaataagta c.*600
. . . . . . g.34906
accatcaaagttactaaaacatggccaggcgcagtggctcatgcctgtaatcccagcact c.*660
. . . . . . g.34966
ttgggaggccgaggtgggcagattgcctgagctcaagagttcgagaccagcctggccaac c.*720
. . . . . . g.35026
atggtgaaaccccatctctactaaaaatacaaaaaattagctgggcatgcacttgtaatt c.*780
. . . . . . g.35086
ccagctactcaggaggctgaggcaagagaactgcttgaatccgggaggtagagattgcag c.*840
. . . . . . g.35146
tgagtcaagatgctgagatgccaccactgcactccagcctgggcaacagagcgagaacct c.*900
. . . . . . g.35206
gtctcaaaaaaaacaaaaacaaagttactaaaatgtcaccttcacagaacaggacagggt c.*960
. . . . . . g.35266
acccttgggtcgcacgggcctggctggcatgtaaacggtcagttgcactgcctagtggtt c.*1020
. . . . . . g.35326
tggtagatctgacttgtaagcagttcatagaagctgctcaatactcaagaatcttgcaag c.*1080
. . . . . . g.35386
acagttattaaacattcatagcttgaaattgcccatggtgggagagtttacatcacaacc c.*1140
. . . . . . g.35446
actacaaatcagcacttgctttcttcttcttaaagagagctgcttaccatacatagcacc c.*1200
. . . . . . g.35506
cacagtgtctcccttctcttctaccccaacccctgaaacacactgacccctattctccag c.*1260
. . . . . . g.35566
atgacagcacagctgtttgggactgatagggtcacagttgccaggttgggaatgctagat c.*1320
. . . . . . g.35626
gtagtcttcacccatcaccttctgtcgtcctcccaggggtgtcatatttacagaggcaaa c.*1380
. . . . . . g.35686
ctcttacagcttggatgatttctcatcaagcaactctactcacctctttttcccctttcc c.*1440
. . . . . . g.35746
ctgtgcgtttcttcttcttgtcctcattttccttgagaaaactctctctataaaaaattt c.*1500
. . . . . . g.35806
ccatagagtatgtggctgataaacaacagaaatttgtttctcacagttctggaggctgga c.*1560
. . . . . . g.35866
agtccaaggtcggggtgccctcatggtcaggtgctggtgaggaccctgatctgggttgca c.*1620
. . . . . . g.35926
gactgctgacttcttattgtgtcctcgtggtagaaagagggttagagcctctggcatgcc c.*1680
. . . . . . g.35986
ttttataagggtactaatcccatcatgaggccccgtccttatgacctcatcacctcccaa c.*1740
. . . . . . g.36046
aggaccccctcctaataccatcacattgggggttagggtttcaacatatgaattgcgggg c.*1800
. . . . . . g.36106
gacacaaacattccgtccatggcacctacttcatagggtttggcatgctgctcggtacat c.*1860
. . . . . . g.36166
ggttaacattcataaatggtgggggcccttactgtggtagaaaccattgtcactgcaagg c.*1920
. . . . . . g.36226
cagccctgcttgggattcaggtgaacaaatgtaacgtgggtgggtgagggactccctcct c.*1980
. . . . . . g.36286
cttcagagaagccctcctgtggctcaggggcagctgcagggccagatggagttggcctgc c.*2040
. . . . . . g.36346
agggagtcagccttaccccatcagagaccaacttgaaagatttttttctctgtgtagttc c.*2100
. . . . . . g.36406
gtgttatcaatctgatctgcagccaggttatttacttctgaagcattggagttatcgatt c.*2160
. . . . . . g.36466
gccattgccccatggttctcactctttgcaggcactcttcaaatttttattttaaaaatt c.*2220
. . . . . . g.36526
ataatgcaaacatctggccatcaccttaaccaagtgacaaagtcctagcacaccattaat c.*2280
. . . . . . g.36586
ggtaggataactgacattaagtgttcctgctgggatgaattatgaagtattccttccaaa c.*2340
. . . . . . g.36646
gatgtcaatggaaactaatcgagtcttacacctaattttcagtttacagtaaatacagag c.*2400
. . . . . . g.36706
gataaagaagttaatggcatggtggaataaccaaaatgtgtatcattctacaaaaaaata c.*2460
. . . . . . g.36766
ggcctggactatttaaggagtgagtgtcactgtgggaagaataagagggggactgtcttg c.*2520
. . . . . . g.36826
tccttgctactcaaagagtggtcctgggcctgtatcatcattgggaccacctgggcgctt c.*2580
. . . . . . g.36886
gttagaatcaaagactctcaggcctcacctagacatccagaatcaaaatctgcattttaa c.*2640
. . . . . . g.36946
caagatgcccaggtgatctgcatgcctgttaaagtctgagctctgttgcagataaccaga c.*2700
. . . . . . g.37006
gacccaacaaccaaaggcaaagcgtaagccttgattggattttggtttaggaaaaatctc c.*2760
. . . . . . g.37066
ataggtataaaagacaactgggaatgttgaatgtggatctggtggtaggtgatattgtta c.*2820
. . . . . . g.37126
gtgatgtgagtgatgcctgctgaagtactgagagatgaagcatcatattgacaacttact c.*2880
. . . . . . g.37186
ccaggaaaaaaggtgtgtgtataggtgtgtgtttggagagtgtgagcgagaactaacatg c.*2940
. . . . . . g.37246
gtaaaatgttaggtggagcatatacagttctcattatactcttattttaaatttatattt c.*3000
. . . . . . g.37306
gaacacagtcaaatctgaatggaaatacatttaaataagcatttctttcagtcatataag c.*3060
. . . . . . g.37366
taatttgcctaaaaatgccctctaagtccatcattaggttaagcgatttactgaaggtgc c.*3120
. . . . . . g.37426
agatatcatgcttatttcattgggttgttttggaatgtcccccacttggagagtttgagg c.*3180
. . . . . . g.37486
aatggaaatgagaatcggaggagaaataaggccagaggctcacattgcttgcagggaacc c.*3240
. . . . . . g.37546
gactgagtaatgaagaagaggaaggaagcccttggaaggaacgtaaaatccatttcagcc c.*3300
. . . . . . g.37606
tgccgccccttggaatggagggtcttctagggaccagaaacaccagacacttcttctgcc c.*3360
. . . . . . g.37666
ccaagcacaccccacactaatttctgctgcagcatcacgatcagggcaaatcagcacagc c.*3420
. . . . . . g.37726
cccccagccatcagtggtgtctagaaaagtaaggataattttcttccttctcactgcagc c.*3480
. . . . . . g.37786
cccaagctcttattaaccttcttttatgtgttcattaaatgcagtcatgtgacaactgtg c.*3540
. . . . . . g.37846
ttcaaagttagaaatagtggtcggggaggcttatagatcctcttgctgttctgaggcctt c.*3600
. . . . . . g.37906
aaaaccaaaaaaataatggaatgattgcatcactgcgaggaagtatacttaattaagaaa c.*3660
. . . . . . g.37966
gttgaaaatggtttgtgtcttactaataggactcacctgaagactctactttgccaagag c.*3720
. . . . . . g.38026
ggaatttttaactcaaagttgtgtcagccagcacggggtagagccatggtcctcatactt c.*3780
. . . . . . g.38086
gctggcatccctcatctggtggtctgttaaagcacagattgctgggccgcaccctcaggg c.*3840
. . . . . . g.38146
tgtgtgattgtgtgattcagtattgctgggtggtgcccaaatgctccagttctaatgtat c.*3900
. . . . . . g.38206
tcccaggtgttgctgatgctggtgattgggtaccacattttgagaaccatggggcattgg c.*3960
. . . . . . g.38266
caatcaacaaatgcaatgcttgtgacttgacgtgataaaagttcatttattgggcaggca c.*4020
. . . . . . g.38326
aagtcctctgcaggcctggaaaccctccgagacaattacttgcatggggtaacccagtaa c.*4080
. . . . . . g.38386
tactgtgggatgcaacttctagggcatggctgcctccttcctagaggcagcagggggaga c.*4140
. . . . . . g.38446
aaacactggaagaggtcaccccaacaattccatcgtaccttggcctaggagtgacctcct c.*4200
. . . . . . g.38506
cagtctcacaaccctttggctagaactagtcatgtgacctcacaggaggtggagcagtgt c.*4260
. . . . . . g.38566
cgtcaatgttatcatccccctgcacctgcaaggaaggaggcccagatgtgtgtaggtgct c.*4320
. . . . . . g.38626
ggatgtctcttccccaaaacatataactctggatttggaaaacaaaactggatataacag c.*4380
. . . . . . g.38686
aaaagaaaaggaggggagaaggaaagttgaagaaattggtgaaatcagaataggacagtg c.*4440
. . . . . . g.38746
aaaggcataaagattttcttctgaaacgctaagatcggttgatatttgtctaatacagct c.*4500
. . . . . . g.38806
ttaaatagagtatcactttgggccaaagaaaattgatataaacatacataaagtggaact c.*4560
. . . . . . g.38866
aagattgacttcttcctagacatctctgcctctgtccacaaaatggaaacttccatcaag c.*4620
. . . . . . g.38926
gagtactggaggacagttcagtatttcttcttatttgctcctccctatgaaaggaagagt c.*4680
. . . . . . g.38986
gacttctctgctgcatgatattgggggtaaatagttattgcacatttgctcaaaccccag c.*4740
. . . . . . g.39046
caaagtgcaccccattttaagccaaatttacaaacttacaaagatgatccaccaatagtt c.*4800
. . . . . . g.39106
ttctctatttactttattcttgctctgtcacccaggctagaatgcagtggtgtgattata c.*4860
. . . . . . g.39166
gctcactgcagcctccaacttctggactcaagtgatcctcccaccttagcttcccaggta c.*4920
. . . . . . g.39226
gctgggatacaggtgcacgccaccacacccaggctagtttttctaaatattggagttccc c.*4980
. . . . . . g.39286
aaagagtattcaaactgatgtgatattttaaaagacattttgtaagcatcttttaggaat c.*5040
. . . . . . g.39346
atcagtaagtggaagaaaaacacatagttatcagtggatattatgccagagaggcatgag c.*5100
. . . . . . g.39406
aaatataattttattttgctaggtatcagcagagtgccctcttataatttgtgtgaaatg c.*5160
. . . . . . g.39466
gaaacaaaggtaacatcgtgttttcaattcacacatatatacaagtaatgagaggtccag c.*5220
. . . . . . g.39526
aagaaatgtggcttcagctctgctgctactgtgcctcccttctcctgccccactcagccc c.*5280
. . . . . . g.39586
acaaaataggctggacactcaaaaaacgttgcgtttatctaccttttagagagggtgaat c.*5340
. . . . . . g.39646
agcagagaactggaggtgggaatggtaaggaactcccagcagggtagtggagggaatggg c.*5400
. . . . . . g.39706
ctgacgcatctaaggctgatgccaggtctgctccctatctgggtggcctcagcaaatgac c.*5460
. . . . . . g.39766
gtccagcacatccaggggcaggctcaagggagaacagcccccaaagctaagatcctgcca c.*5520
. . . . . . g.39826
agctaaatacagtagttctaatgaaatgtgagaggctataatcccatttgggaaattcct c.*5580
. . . . . . g.39886
aaaaagtcatgaggcaggggattggtttatgttattatcatgacctgagagtcatggctc c.*5640
. . . . . . g.39946
agagccaaatgttcaggattgaattcaacagcatttaaatgtctttagagcaggatggaa c.*5700
. . . . . . g.40006
atatgttagcaatgcctgcagagtgccaagtaaacgcaaaagccaatgagatcataaagg c.*5760
. . . . . . g.40066
aagttgttagctaacctaggtggagtcgccaacttccttctactctaataattaaaaata c.*5820
. . . . . . g.40126
aaaataatacttgggaggtaactggaataaaggttctaaaatcaaaaccctctgaagggt c.*5880
. . . . . . g.40186
gaaaactgggagcctcctgttcccatagtaaccacagcactcagggcactgtctcccagc c.*5940
. . . . . . g.40246
gctggagtactgtcttatgaccagagatcctaagcaacctctgctcatctgagttgtcca c.*6000
. . . . . . g.40306
ccatattgtgggcatgagtccttgacaatagtaaatagcacctctgttcccttattgggt c.*6060
. . . . . . g.40366
aaatgattttccaactctgggaatgtgtagaattcattatggaaataatgcaataattca c.*6120
. . . . . . g.40426
aatccataatattgatactttcatgttaagtttaggactaatcttgtgtatgctccttaa c.*6180
. . . . . . g.40486
gtgatttgaatctttaaaaagcttatgattccaatttgaaatgtgaaattgattttacgt c.*6240
. . . . . . g.40546
ttgtgatttgaagttgaaaggtataagaatatttaacttagctcatgaaaagtattagac c.*6300
. . . . . . g.40606
tagatttactataagtttaatgtattagatttacaagagatgcttaaatatatgagaatg c.*6360
. . . . . . g.40666
ttttgtcttaattggttataatcttgtcatatcaatgatttgaagtgctaaaatagaaaa c.*6420
. . . . . . g.40726
ttaaatatgataaattacacaagaagtttagaatgtttaaaagattttaataaacaaagc c.*6480
. g.40738
ctataactaaga c.*6492
(downstream sequence)
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