(used for variant description)
(last modified September 6, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001822.5 in the CHN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012642.1, covering CHN1 transcript NM_001822.5.
(upstream sequence)
. . . . g.5230
cgcctctccgccagccactgcgccgcggccaagcctcctgc c.-301
. . . . . . g.5290
ctcgcaggtacctcctcccgcgcgcacgctccgcgcctgatggcagcgacaagtgccggc c.-241
. . . . . . g.5350
tcgcggagagctagcggggctccctgggcccggtgcgcccgacaataacgcgtgaataac c.-181
. . . . . . g.5410
tttttcttgcagcggtcccccgcgtcccggcctgcagcctccccgggcgccggcgccccc c.-121
. . . . . . g.5470
agcacgccccatcgggcaccccactctctccgaggtgtgggtgcggcgggctgatgaggt c.-61
. . . . . . g.5530
gatccctagcccgcctgggaggagcgcctggactcgcgggcggcggcgagcgcctttaca c.-1
. | 02 . . . | 03 g.65501
ATGGCCCTGACCCTGTTTG | ATACAGATGAATATAGACCTCCTGTTTGGAAATCTTACT | TA c.60
M A L T L F D | T D E Y R P P V W K S Y L | p.20
. . . . . | 04 . g.91883
TATCAGCTACAACAGGAAGCCCCTCATCCTCGAAGAATTACCTGTACTTGCGAG | GTGGAA c.120
Y Q L Q Q E A P H P R R I T C T C E | V E p.40
. . | 05 . . . . g.95305
AACAGACCAAAGTATTATGGAAGAGA | GTTTCATGGCATGATCTCCAGAGAAGCAGCCGAC c.180
N R P K Y Y G R E | F H G M I S R E A A D p.60
. . . . . . g.95365
CAGCTCTTGATTGTGGCTGAGGGGAGCTACCTCATCCGGGAGAGCCAGCGGCAGCCAGGG c.240
Q L L I V A E G S Y L I R E S Q R Q P G p.80
. . | 06 . . . . g.132354
ACCTACACTTTGGCTTTAAG | ATTTGGAAGTCAAACCAGAAACTTCAGGCTCTACTACGAT c.300
T Y T L A L R | F G S Q T R N F R L Y Y D p.100
. . . . . . g.132414
GGCAAGCACTTTGTTGGGGAGAAACGCTTTGAGTCCATCCACGATCTGGTGACTGATGGC c.360
G K H F V G E K R F E S I H D L V T D G p.120
. . . . . . g.132474
TTGATTACTCTCTATATTGAAACCAAGGCAGCAGAATACATTGCCAAGATGACGATAAAC c.420
L I T L Y I E T K A A E Y I A K M T I N p.140
. . . . . . g.132534
CCAATTTATGAGCACGTAGGATACACAACCTTAAACAGAGAGCCAGCATACAAAAAACAT c.480
P I Y E H V G Y T T L N R E P A Y K K H p.160
. . . . . . g.132594
ATGCCAGTCCTGAAAGAGACACATGATGAGAGAGATTCTACAGGCCAGGATGGGGTGTCA c.540
M P V L K E T H D E R D S T G Q D G V S p.180
| 07 . . . . . g.163536
GAGAAAAGG | TTGACATCACTTGTTAGAAGAGCAACTCTGAAAGAAAACGAGCAAATTCCA c.600
E K R | L T S L V R R A T L K E N E Q I P p.200
. . | 08. . . . g.185957
AAATATGAAAAGATTCACAATTTCAAG | GTGCATACATTCAGAGGGCCACACTGGTGTGAA c.660
K Y E K I H N F K | V H T F R G P H W C E p.220
. . . . . | 09 . g.197968
TACTGTGCCAACTTTATGTGGGGTCTCATTGCTCAGGGAGTGAAATGTGCAG | ATTGTGGT c.720
Y C A N F M W G L I A Q G V K C A D | C G p.240
. . . . . . g.198028
TTGAATGTTCATAAGCAGTGTTCCAAGATGGTCCCAAATGACTGTAAGCCAGACTTGAAG c.780
L N V H K Q C S K M V P N D C K P D L K p.260
. . . . . . g.198088
CATGTCAAAAAGGTGTACAGCTGTGACCTTACGACGCTCGTGAAAGCACATACCACTAAG c.840
H V K K V Y S C D L T T L V K A H T T K p.280
. . . . | 10 . . g.198868
CGGCCAATGGTGGTAGACATGTGCATCAGGGAGATTGAGTCTAGAG | GTCTTAATTCTGAA c.900
R P M V V D M C I R E I E S R G | L N S E p.300
. . . . . . g.198928
GGACTATACCGAGTATCAGGATTTAGTGACCTAATTGAAGATGTCAAGATGGCTTTCGAC c.960
G L Y R V S G F S D L I E D V K M A F D p.320
| 11 . . . . . . g.201456
AGAG | ATGGTGAGAAGGCAGATATTTCTGTGAACATGTATGAAGATATCAACATTATCACT c.1020
R D | G E K A D I S V N M Y E D I N I I T p.340
. . . . . . g.201516
GGTGCACTTAAACTGTACTTCAGGGATTTGCCAATTCCACTCATTACATATGATGCCTAC c.1080
G A L K L Y F R D L P I P L I T Y D A Y p.360
. . | 12 . . . . g.208668
CCTAAGTTTATAGAATCTGCCA | AAATTATGGATCCGGATGAGCAATTGGAAACCCTTCAT c.1140
P K F I E S A K | I M D P D E Q L E T L H p.380
. . . . . . g.208728
GAAGCACTGAAACTACTGCCACCTGCTCACTGCGAAACCCTCCGGTACCTCATGGCACAT c.1200
E A L K L L P P A H C E T L R Y L M A H p.400
| 13 . . . . . g.210207
CTAAAGAG | AGTGACCCTCCACGAAAAGGAGAATCTTATGAATGCAGAGAACCTTGGAATC c.1260
L K R | V T L H E K E N L M N A E N L G I p.420
. . . . . . g.210267
GTCTTTGGACCCACCCTTATGAGATCTCCAGAACTAGACGCCATGGCTGCATTGAATGAT c.1320
V F G P T L M R S P E L D A M A A L N D p.440
. . . . . . g.210327
ATACGGTATCAGAGACTGGTGGTGGAGCTGCTTATCAAAAACGAAGACATTTTATTTTAA c.1380
I R Y Q R L V V E L L I K N E D I L F X p.459
. . . . . . g.210387
atttttaatttgaggggaaaagaaatgttttacagatgaaggaatgttttatagtaattt c.*60
. . . . . . g.210447
aatttgctcctgtagctgcattatttcttgattagaggtttgggcatataaccagattaa c.*120
. . . . . . g.210507
agtgaaggaactttctgttgtttttgtagcaccgctcagctgtcttgtaaaacagtgaac c.*180
. . . . . . g.210567
acacgctttctggttctagtaatcctgggtgtttatcacgttcagagaaactcaagctat c.*240
. . . . . . g.210627
tgcatgattagccccctatctggcaaggaaaccccatacagaagaaacaacaaacctgcg c.*300
. . . . . . g.210687
cctgcaccgcctctgcgtcctgggtagtctgtgcttgtaatccagcatgtttcacagagt c.*360
. . . . . . g.210747
aagcctgttgtgactttgcttttggggtctatgtcattggtttctgatgcttgtacaaac c.*420
. . . . . . g.210807
acgcacacacaaatggataaaacagcacctctggctgttacattaccataaaccatatca c.*480
. . . . . . g.210867
catgcctacattttacaaatgatttctggtttctcttagttcttctctaacatagtactt c.*540
. . . . . . g.210927
tctttccagcaaaagcaaaatgtgttttcagatttgttactttaataaaggttatccata c.*600
. . . . . . g.210987
ccaataaaaagtgtacaacacagcattttctgttaaattattattggttttcagttgtaa c.*660
. . . . . . g.211047
tttggtattttttctggcatgcgtttattaatttattaaattggcttttagaaataaaaa c.*720
. . . . . . g.211107
atattgatagcttacttttttctcataagaatattcgggaaaatgtgtttggccatttat c.*780
. . g.211129
taaatactgagtacttcttctg c.*802
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 16
©2004-2016 Leiden University Medical Center