(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001207014.1 in the SERPINH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SERPINH1 transcript NM_001207014.1.
(upstream sequence)
. . . . g.5042
agtaggacccaggggccgggaggcgccggcagagggaggggc c.-301
. . . . . . g.5102
cgggggccggggaggttttgagggaggtctttggctttttttggcggagctggggcgccc c.-241
. . . . . . g.5162
tccggaagcgtttccaactttccagaagtttctcgggacgggcaggagggggtggggact c.-181
. . . . . . g.5222
gccatatatagatcccgggagcaggggagcgggctaagagtagaatcgtgtcgcggctcg c.-121
. . . . . | 02 . g.6689
agagcgagagtcacgtcccggcgctagcccagcccgacccag | aatgaaaaaggcaggcat c.-61
. . . | 03 . . . g.9294
tgacctccctctgaggcagtttccag | gcccaccgtggtgcacgcaaaccacttcctggcc c.-1
. . . . . . g.9354
ATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCTCCTGGAGGCGGCCCTGGCCGCCGAG c.60
M R S L L L L S A F C L L E A A L A A E p.20
. . . . . . g.9414
GTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCACTGCGGAGAAGTTGAGCCCCAAGGCG c.120
V K K P A A A A A P G T A E K L S P K A p.40
. . . . . . g.9474
GCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTTCAGCTTGTACCAGGCCATGGCCAAG c.180
A T L A E R S A G L A F S L Y Q A M A K p.60
. . . . . . g.9534
GACCAGGCAGTGGAGAACATCCTGGTGTCACCCGTGGTGGTGGCCTCGTCGCTAGGGCTC c.240
D Q A V E N I L V S P V V V A S S L G L p.80
. . . . . . g.9594
GTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCAGGCCAAGGCAGTGCTGAGCGCCGAG c.300
V S L G G K A T T A S Q A K A V L S A E p.100
. . . . . . g.9654
CAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGGCGAGCTGCTGCGCTCACTCAGCAAC c.360
Q L R D E E V H A G L G E L L R S L S N p.120
. . . . . . g.9714
TCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGCCGACTGTACGGACCCAGCTCAGTG c.420
S T A R N V T W K L G S R L Y G P S S V p.140
. . . . . . g.9774
AGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCAGCACTACAACTGCGAGCACTCCAAG c.480
S F A D D F V R S S K Q H Y N C E H S K p.160
. . . . . . g.9834
ATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTCCATCAACGAGTGGGCCGCGCAGACC c.540
I N F R D K R S A L Q S I N E W A A Q T p.180
. . . . . . g.9894
ACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGTGGAGCGCACGGACGGCGCCCTGCTA c.600
T D G K L P E V T K D V E R T D G A L L p.200
. . | 04 . . . . g.11713
GTCAACGCCATGTTCTTCAAGC | CACACTGGGATGAGAAATTCCACCACAAGATGGTGGAC c.660
V N A M F F K P | H W D E K F H H K M V D p.220
. . . . . . g.11773
AACCGTGGCTTCATGGTGACTCGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACA c.720
N R G F M V T R S Y T V G V M M M H R T p.240
| 05 . . . . . . g.11942
G | GCCTCTACAACTACTACGACGACGAGAAGGAAAAGCTGCAAATCGTGGAGATGCCCCTG c.780
G | L Y N Y Y D D E K E K L Q I V E M P L p.260
. . . . . . g.12002
GCCCACAAGCTCTCCAGCCTCATCATCCTCATGCCCCATCACGTGGAGCCTCTCGAGCGC c.840
A H K L S S L I I L M P H H V E P L E R p.280
. . . . . . g.12062
CTTGAAAAGCTGCTAACCAAAGAGCAGCTGAAGATCTGGATGGGGAAGATGCAGAAGAAG c.900
L E K L L T K E Q L K I W M G K M Q K K p.300
. . . . . | 06 . g.14731
GCTGTTGCCATCTCCTTGCCCAAGGGTGTGGTGGAGGTGACCCATGACCTGCAG | AAACAC c.960
A V A I S L P K G V V E V T H D L Q | K H p.320
. . . . . . g.14791
CTGGCTGGGCTGGGCCTGACTGAGGCCATTGACAAGAACAAGGCCGACTTGTCACGCATG c.1020
L A G L G L T E A I D K N K A D L S R M p.340
. . . . . . g.14851
TCAGGCAAGAAGGACCTGTACCTGGCCAGCGTGTTCCACGCCACCGCCTTTGAGTTGGAC c.1080
S G K K D L Y L A S V F H A T A F E L D p.360
. . . . . . g.14911
ACAGATGGCAACCCCTTTGACCAGGACATCTACGGGCGCGAGGAGCTGCGCAGCCCCAAG c.1140
T D G N P F D Q D I Y G R E E L R S P K p.380
. . . . . . g.14971
CTGTTCTACGCCGACCACCCCTTCATCTTCCTAGTGCGGGACACCCAAAGCGGCTCCCTG c.1200
L F Y A D H P F I F L V R D T Q S G S L p.400
. . . . . g.15028
CTATTCATTGGGCGCCTGGTCCGGCCTAAGGGTGACAAGATGCGAGACGAGTTATAG c.1257
L F I G R L V R P K G D K M R D E L X p.418
. . . . . . g.15088
ggcctcagggtgcacacaggatggcaggaggcatccaaaggctcctgagacacatgggtg c.*60
. . . . . . g.15148
ctattggggttgggggggaggtgaggtaccagccttggatactccatggggtgggggtgg c.*120
. . . . . . g.15208
aaaaacagaccggggttcccgtgtgcctgagcggaccttcccagctagaattcactccac c.*180
. . . . . . g.15268
ttggacatgggccccagataccatgatgctgagcccggaaactccacatcctgtgggacc c.*240
. . . . . . g.15328
tgggccatagtcattctgcctgccctgaaagtcccagatcaagcctgcctcaatcagtat c.*300
. . . . . . g.15388
tcatatttatagccaggtaccttctcacctgtgagaccaaattgagctaggggggtcagc c.*360
. . . . . . g.15448
cagccctcttctgacactaaaacacctcagctgcctccccagctctatcccaacctctcc c.*420
. . . . . . g.15508
caactataaaactaggtgctgcagcccctgggaccaggcacccccagaatgacctggccg c.*480
. . . . . . g.15568
cagtgaggcggattgagaaggagctcccaggaggggcttctgggcagactctggtcaaga c.*540
. . . . . . g.15628
agcatcgtgtctggcgttgtggggatgaactttttgttttgtttcttccttttttagttc c.*600
. . . . . . g.15688
ttcaaagatagggagggaagggggaacatgagcctttgttgctatcaatccaagaactta c.*660
. . . . . . g.15748
tttgtacattttttttttcaataaaacttttccaatgacattttgttggagcgtggaaga c.*720
g.15749
a c.*721
(downstream sequence)
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