Canonical Allele Identifier: CA343772020

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873037C>A (hg19) ; chr1:g.173903899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903899C>A , CM000663.2:g.173903899C>A	GRCh38
NC_000001.10:g.173873037C>A , CM000663.1:g.173873037C>A	GRCh37
NC_000001.9:g.172139660C>A	NCBI36
NG_012462.1:g.18480G>T , LRG_577:g.18480G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1385G>T MANE Select	ENSP00000356671.3:p.Cys462Phe
ENST00000367698.3:c.1385G>T	ENSP00000356671.3:p.Cys462Phe
ENST00000617423.4:c.770G>T	ENSP00000478688.1:p.Cys257Phe
NM_000488.3:c.1385G>T , LRG_577t1:c.1385G>T	NP_000479.1:p.Cys462Phe
XM_005245198.2:c.1241G>T	XP_005245255.1:p.Cys414Phe
NM_001365052.1:c.1241G>T	NP_001351981.1:p.Cys414Phe
NM_000488.4:c.1385G>T MANE Select	NP_000479.1:p.Cys462Phe
NM_001365052.2:c.1241G>T	NP_001351981.1:p.Cys414Phe
NM_001386302.1:c.1508G>T	NP_001373231.1:p.Cys503Phe
NM_001386303.1:c.1466G>T	NP_001373232.1:p.Cys489Phe
NM_001386304.1:c.1364G>T	NP_001373233.1:p.Cys455Phe
NM_001386305.1:c.1328G>T	NP_001373234.1:p.Cys443Phe
NM_001386306.1:c.1169G>T	NP_001373235.1:p.Cys390Phe