(used for variant description)
(last modified May 15, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_138737.3 in the HEPH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016265.1, covering HEPH transcript NM_138737.3.
(upstream sequence)
. g.5017
actgagcatttctaagg c.-121
. . . . . . g.5077
gagttgaggctggtggctcctccttccttcctactggtgcttccacctgccttggtctga c.-61
. . . . . . g.5137
gttgcagtccatggggcagcgcctaagtgtctgagcacacttaagaatctctagtggttt c.-1
. . . . . . g.5197
ATGACCCAGACTTTGCCCTACCACCTCAGTCTTCTGAATGTTCTCTTCCCTGGACCCTGC c.60
M T Q T L P Y H L S L L N V L F P G P C p.20
. . . . . . g.5257
TCCAGACACTTTAAATTCAGAAGAGGAAAATGTGCCCAGCCTGCCTGGAGAAAAGTGTCT c.120
S R H F K F R R G K C A Q P A W R K V S p.40
. . | 02 . . . g.12998
GCTCCTAGCCAAGATCTCCTCATCACAAA | AGTAATGTGGGCCATGGAGTCAGGCCACCTC c.180
A P S Q D L L I T K | V M W A M E S G H L p.60
. . . . . . g.13058
CTCTGGGCTCTGCTGTTCATGCAGTCCTTGTGGCCTCAACTGACTGATGGAGCCACTCGA c.240
L W A L L F M Q S L W P Q L T D G A T R p.80
. . . . . . g.13118
GTCTACTACCTGGGCATCCGGGATGTGCAGTGGAACTATGCTCCCAAGGGAAGAAATGTC c.300
V Y Y L G I R D V Q W N Y A P K G R N V p.100
. . | 03 . . . g.14795
ATCACGAACCAGCCTCTGGACAGTGACAT | AGTGGCTTCCAGCTTCTTAAAGTCTGACAAG c.360
I T N Q P L D S D I | V A S S F L K S D K p.120
. . . . . . g.14855
AACCGGATAGGGGGAACCTACAAGAAGACCATCTATAAAGAATACAAGGATGACTCATAC c.420
N R I G G T Y K K T I Y K E Y K D D S Y p.140
. . . . . . g.14915
ACAGATGAAGTGGCCCAGCCTGCCTGGTTGGGCTTCCTGGGGCCAGTGTTGCAGGCTGAA c.480
T D E V A Q P A W L G F L G P V L Q A E p.160
. . . . . . g.14975
GTGGGGGATGTCATTCTTATTCACCTGAAGAATTTTGCCACTCGTCCCTATACCATCCAC c.540
V G D V I L I H L K N F A T R P Y T I H p.180
. . . | 04 . . . g.16024
CCTCATGGTGTCTTCTACGAGAAGGACTCTGAAG | GTTCCCTATACCCAGATGGCTCCTCT c.600
P H G V F Y E K D S E G | S L Y P D G S S p.200
. . . . . . g.16084
GGGCCACTGAAAGCTGATGACTCTGTTCCCCCGGGGGGCAGCCATATCTACAACTGGACC c.660
G P L K A D D S V P P G G S H I Y N W T p.220
. . . . . . g.16144
ATTCCAGAAGGCCATGCACCCACCGATGCTGACCCAGCGTGCCTCACCTGGATCTACCAT c.720
I P E G H A P T D A D P A C L T W I Y H p.240
. . . . . . g.16204
TCTCATGTAGATGCTCCACGAGACATTGCAACTGGCCTAATTGGGCCTCTCATCACCTGT c.780
S H V D A P R D I A T G L I G P L I T C p.260
| 05. . . . . . g.30821
AAAAGAG | GAGCCCTGGATGGGAACTCCCCTCCTCAACGCCAGGATGTAGACCATGATTTC c.840
K R G | A L D G N S P P Q R Q D V D H D F p.280
. . . . . . g.30881
TTCCTCCTCTTCAGTGTGGTAGATGAGAACCTCAGCTGGCATCTCAATGAGAACATTGCC c.900
F L L F S V V D E N L S W H L N E N I A p.300
. . . . . . g.30941
ACTTACTGCTCAGATCCTGCTTCAGTGGACAAAGAAGATGAGACATTTCAGGAGAGCAAT c.960
T Y C S D P A S V D K E D E T F Q E S N p.320
. | 06 . . . . . g.32143
AGGATGCATG | CAATCAATGGCTTTGTTTTTGGGAATTTACCTGAGCTGAACATGTGTGCA c.1020
R M H A | I N G F V F G N L P E L N M C A p.340
. . . . . . g.32203
CAGAAACGTGTGGCCTGGCACTTGTTTGGCATGGGCAATGAAATTGATGTCCACACAGCA c.1080
Q K R V A W H L F G M G N E I D V H T A p.360
. . . . . . g.32263
TTTTTCCATGGACAGATGCTGACTACCCGTGGACACCACACTGATGTGGCTAACATCTTT c.1140
F F H G Q M L T T R G H H T D V A N I F p.380
. . . . . . g.32323
CCAGCCACCTTTGTGACTGCTGAGATGGTGCCCTGGGAACCTGGTACCTGGTTAATTAGC c.1200
P A T F V T A E M V P W E P G T W L I S p.400
. . | 07 . . . . g.34574
TGCCAAGTGAACAGTCACTTTCGAG | ATGGCATGCAGGCACTCTACAAGGTCAAGTCTTGC c.1260
C Q V N S H F R D | G M Q A L Y K V K S C p.420
. . . . . . g.34634
TCCATGGCCCCTCCTGTGGACCTGCTCACAGGCAAAGTTCGACAGTACTTCATTGAGGCC c.1320
S M A P P V D L L T G K V R Q Y F I E A p.440
. . . . . . g.34694
CATGAGATTCAATGGGACTATGGCCCGATGGGGCATGATGGGAGTACTGGGAAGAATTTG c.1380
H E I Q W D Y G P M G H D G S T G K N L p.460
. | 08 . . . . . g.35957
AGAGAGCCAGGCAG | TATCTCAGATAAGTTTTTCCAGAAGAGCTCCAGCCGAATTGGGGGC c.1440
R E P G S | I S D K F F Q K S S S R I G G p.480
. . . . . . g.36017
ACTTACTGGAAAGTGCGATATGAAGCCTTTCAAGATGAGACATTCCAAGAGAAGATGCAT c.1500
T Y W K V R Y E A F Q D E T F Q E K M H p.500
. . . | 09 . . . g.37536
TTGGAGGAAGATAGGCATCTTGGAATCCTGG | GGCCAGTGATCCGGGCTGAGGTGGGTGAC c.1560
L E E D R H L G I L G | P V I R A E V G D p.520
. . . . . . g.37596
ACCATTCAGGTGGTCTTCTACAACCGTGCCTCCCAGCCATTCAGCATGCAGCCCCATGGG c.1620
T I Q V V F Y N R A S Q P F S M Q P H G p.540
. . . . | 10 . . g.40109
GTCTTTTATGAGAAAGACTATGAAGGCACTGTGTACAATGATG | GCTCATCTTACCCTGGC c.1680
V F Y E K D Y E G T V Y N D G | S S Y P G p.560
. . . . . . g.40169
TTGGTTGCCAAGCCCTTTGAGAAAGTAACATACCGCTGGACAGTCCCCCCTCATGCCGGT c.1740
L V A K P F E K V T Y R W T V P P H A G p.580
. . . . . . g.40229
CCCACTGCTCAGGATCCTGCTTGTCTCACTTGGATGTACTTCTCTGCTGCAGATCCCATA c.1800
P T A Q D P A C L T W M Y F S A A D P I p.600
. . . . . . g.40289
AGAGACACAAATTCTGGCCTGGTGGGCCCGCTGCTGGTGTGCAGGGCTGGTGCCTTGGGT c.1860
R D T N S G L V G P L L V C R A G A L G p.620
. | 11 . . . . . g.41332
GCAGATGGCAAGCAG | AAAGGGGTGGATAAAGAATTCTTTCTTCTCTTCACTGTGTTGGAT c.1920
A D G K Q | K G V D K E F F L L F T V L D p.640
. . . . . . g.41392
GAGAACAAGAGCTGGTACAGCAATGCCAATCAAGCAGCTGCTATGTTGGATTTCCGACTG c.1980
E N K S W Y S N A N Q A A A M L D F R L p.660
. . . . | 12 . . g.42963
CTTTCAGAGGATATTGAGGGCTTCCAAGACTCCAATCGGATGCATG | CCATTAATGGGTTT c.2040
L S E D I E G F Q D S N R M H A | I N G F p.680
. . . . . . g.43023
CTGTTCTCTAACCTGCCCAGGCTGGACATGTGCAAGGGTGACACAGTGGCCTGGCACCTG c.2100
L F S N L P R L D M C K G D T V A W H L p.700
. . . . . . g.43083
CTCGGCCTGGGCACAGAGACTGATGTGCATGGAGTCATGTTCCAGGGCAACACTGTGCAG c.2160
L G L G T E T D V H G V M F Q G N T V Q p.720
. . . . . . g.43143
CTTCAGGGCATGAGGAAGGGTGCAGCTATGCTCTTTCCTCATACCTTTGTCATGGCCATC c.2220
L Q G M R K G A A M L F P H T F V M A I p.740
. | 13 . . . . g.45814
ATGCAGCCTGACAACCTTG | GGACATTTGAGATTTATTGCCAGGCAGGCAGCCATCGAGAA c.2280
M Q P D N L G | T F E I Y C Q A G S H R E p.760
. . . . . . g.45874
GCAGGGATGAGGGCAATCTATAATGTCTCCCAGTGTCCTGGCCACCAAGCCACCCCTCGC c.2340
A G M R A I Y N V S Q C P G H Q A T P R p.780
. . . . . . g.45934
CAACGCTACCAAGCTGCAAGAATCTACTATATCATGGCAGAAGAAGTAGAGTGGGACTAT c.2400
Q R Y Q A A R I Y Y I M A E E V E W D Y p.800
. . . . . | 14 . g.49611
TGCCCTGACCGGAGCTGGGAACGGGAATGGCACAACCAGTCTGAGAAGGACAG | TTATGGT c.2460
C P D R S W E R E W H N Q S E K D S | Y G p.820
. . . . . . g.49671
TACATTTTCCTGAGCAACAAGGATGGGCTCCTGGGTTCCAGATACAAGAAAGCTGTATTC c.2520
Y I F L S N K D G L L G S R Y K K A V F p.840
. . . . . . g.49731
AGGGAATACACTGATGGTACATTCAGGATCCCTCGGCCAAGGACTGGACCAGAAGAACAC c.2580
R E Y T D G T F R I P R P R T G P E E H p.860
. | 15 . . . . . g.50571
TTGGGAATCTTGG | GTCCACTTATCAAAGGTGAAGTTGGTGATATCCTGACTGTGGTATTC c.2640
L G I L G | P L I K G E V G D I L T V V F p.880
. . . . . . g.50631
AAGAATAATGCCAGCCGCCCCTACTCTGTGCATGCTCATGGAGTGCTAGAATCTACTACT c.2700
K N N A S R P Y S V H A H G V L E S T T p.900
. . | 16 . . . . g.97479
GTCTGGCCACTGGCTGCTGAGCCTG | GTGAGGTGGTCACTTATCAGTGGAACATCCCAGAG c.2760
V W P L A A E P G | E V V T Y Q W N I P E p.920
. . . . . . g.97539
AGGTCTGGCCCTGGGCCCAATGACTCTGCTTGTGTTTCCTGGATCTATTATTCTGCAGTG c.2820
R S G P G P N D S A C V S W I Y Y S A V p.940
. | 17 . . . . . g.98562
GATCCCATCAAG | GACATGTATAGTGGCCTGGTGGGGCCCTTGGCTATCTGCCAAAAGGGC c.2880
D P I K | D M Y S G L V G P L A I C Q K G p.960
. . . . . . g.98622
ATCCTGGAGCCCCATGGAGGACGGAGTGACATGGATCGGGAATTTGCATTGTTGTTCTTG c.2940
I L E P H G G R S D M D R E F A L L F L p.980
. . . . . . g.98682
ATTTTTGATGAAAATAAGTCTTGGTATTTGGAGGAAAATGTGGCAACCCATGGGTCCCAG c.3000
I F D E N K S W Y L E E N V A T H G S Q p.1000
. . . . . | 18 g.101251
GATCCAGGCAGTATTAACCTACAGGATGAAACTTTCTTGGAGAGCAATAAAATGCATG | CA c.3060
D P G S I N L Q D E T F L E S N K M H A | p.1020
. . . . . . g.101311
ATCAATGGGAAACTCTATGCCAACCTTAGGGGTCTTACCATGTACCAAGGAGAACGAGTG c.3120
I N G K L Y A N L R G L T M Y Q G E R V p.1040
. . . . . . g.101371
GCCTGGTACATGCTGGCCATGGGCCAAGATGTGGATCTACACACCATCCACTTTCATGCA c.3180
A W Y M L A M G Q D V D L H T I H F H A p.1060
. | 19 . . . . g.102551
GAGAGCTTCCTCTATCGG | AATGGCGAGAACTACCGGGCAGATGTGGTGGATCTGTTCCCA c.3240
E S F L Y R | N G E N Y R A D V V D L F P p.1080
. . . . . . g.102611
GGGACTTTTGAGGTTGTGGAGATGGTGGCCAGCAACCCTGGGACATGGCTGATGCACTGC c.3300
G T F E V V E M V A S N P G T W L M H C p.1100
. . . . . . g.102671
CATGTGACTGACCATGTCCATGCTGGCATGGAGACCCTCTTCACTGTTTTTTCTCGAACA c.3360
H V T D H V H A G M E T L F T V F S R T p.1120
| 20 . . . . | 21 . . g.108863
G | AACACTTAAGCCCTCTCACCGTCATCACCAAAGAGACTGAAAAAG | CAGTGCCCCCCAGA c.3420
E | H L S P L T V I T K E T E K A | V P P R p.1140
. . . . . . g.108923
GACATTGAAGAAGGCAATGTGAAGATGCTGGGCATGCAGATCCCCATAAAGAATGTTGAG c.3480
D I E E G N V K M L G M Q I P I K N V E p.1160
. . . . . . g.108983
ATGCTGGCCTCTGTTTTGGTTGCCATTAGTGTCACCCTTCTGCTCGTTGTTCTGGCTCTT c.3540
M L A S V L V A I S V T L L L V V L A L p.1180
. . . . . . g.109043
GGTGGAGTGGTTTGGTACCAACATCGACAGAGAAAGCTACGACGCAATAGGAGGTCCATC c.3600
G G V V W Y Q H R Q R K L R R N R R S I p.1200
. . . g.109082
CTGGATGACAGCTTCAAGCTTCTGTCTTTCAAACAGTAA c.3639
L D D S F K L L S F K Q X p.1212
. . . . . . g.109142
catctggagcctggagatatcctcaggaagcacatctgtagtgcactcccagcaggccat c.*60
. . . . . . g.109202
ggactagtcactaaccccacactcaaaggggcatgggtggtggagaagcagaaggagcaa c.*120
. . . . . . g.109262
tcaagcttatctggatatttctttctttatttattttacatggaaataatatgatttcac c.*180
. . . . . . g.109322
tttttctttagtttctttgctctacgtgggcacctggcactaagggagtaccttattatc c.*240
. . . . . . g.109382
ctacatcgcaaatttcaacagctacattatatttccttctgacacttggaaggtattgaa c.*300
. . . . . . g.109442
atttctagaaatgtatccttctcacaaagtagagaccaagagaaaaactcattgattggg c.*360
. . . . . . g.109502
tttctacttctttcaaggactcaggaaatttcactttgaactgaggccaagtgagctgtt c.*420
. . . . . . g.109562
aagataacccacacttaaactaaaggctaagaatataggcttgatgggaaattgaaggta c.*480
. . . . . . g.109622
ggctgagtattgggaatccaaattgaattttgattctccttggcagtgaactactttgaa c.*540
. . . . . . g.109682
gaagtggtcaatgggttgttgctgccatgagcatgtacaacctctggagctagaagctcc c.*600
. . . . . . g.109742
tcaggaaagccagttctccaagttcttaacctgtggcactgaaaggaatgttgagttacc c.*660
. . . . . g.109799
tcttcatgttttagacagcaaaccctatccattaaagtacttgttagaacactgaaa c.*717
(downstream sequence)
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