Canonical Allele Identifier: CA343774550

Gene: SERPINC1

Linked Data

• dbSNP Id: rs2102783093
• gnomAD v4: 1-173909856-C-A
• MyVariant Identifiers: chr1:g.173878994C>A (hg19) ; chr1:g.173909856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909856C>A , CM000663.2:g.173909856C>A	GRCh38
NC_000001.10:g.173878994C>A , CM000663.1:g.173878994C>A	GRCh37
NC_000001.9:g.172145617C>A	NCBI36
NG_012462.1:g.12523G>T , LRG_577:g.12523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.849G>T MANE Select	ENSP00000356671.3:p.Met283Ile
ENST00000367698.3:c.849G>T	ENSP00000356671.3:p.Met283Ile
ENST00000487183.1:n.500G>T
ENST00000617423.4:c.559+2008G>T	ENSP00000478688.1:n.559+2008G>T
NM_000488.3:c.849G>T , LRG_577t1:c.849G>T	NP_000479.1:p.Met283Ile
XM_005245198.2:c.705G>T	XP_005245255.1:p.Met235Ile
NM_001365052.1:c.705G>T	NP_001351981.1:p.Met235Ile
NM_000488.4:c.849G>T MANE Select	NP_000479.1:p.Met283Ile
NM_001365052.2:c.705G>T	NP_001351981.1:p.Met235Ile
NM_001386302.1:c.972G>T	NP_001373231.1:p.Met324Ile
NM_001386303.1:c.930G>T	NP_001373232.1:p.Met310Ile
NM_001386304.1:c.828G>T	NP_001373233.1:p.Met276Ile
NM_001386305.1:c.792G>T	NP_001373234.1:p.Met264Ile
NM_001386306.1:c.633G>T	NP_001373235.1:p.Met211Ile