Canonical Allele Identifier: CA343776832

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173911992-G-A
• COSMIC: COSM1265301
• MyVariant Identifiers: chr1:g.173881130G>A (hg19) ; chr1:g.173911992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911992G>A , CM000663.2:g.173911992G>A	GRCh38
NC_000001.10:g.173881130G>A , CM000663.1:g.173881130G>A	GRCh37
NC_000001.9:g.172147753G>A	NCBI36
NG_012462.1:g.10387C>T , LRG_577:g.10387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.431C>T MANE Select	ENSP00000356671.3:p.Ser144Phe
ENST00000367698.3:c.431C>T	ENSP00000356671.3:p.Ser144Phe
ENST00000487183.1:n.136C>T
ENST00000494024.1:n.657C>T
ENST00000617423.4:c.431C>T	ENSP00000478688.1:p.Ser144Phe
NM_000488.3:c.431C>T , LRG_577t1:c.431C>T	NP_000479.1:p.Ser144Phe
XM_005245198.2:c.287C>T	XP_005245255.1:p.Ser96Phe
NM_001365052.1:c.287C>T	NP_001351981.1:p.Ser96Phe
NM_000488.4:c.431C>T MANE Select	NP_000479.1:p.Ser144Phe
NM_001365052.2:c.287C>T	NP_001351981.1:p.Ser96Phe
NM_001386302.1:c.431C>T	NP_001373231.1:p.Ser144Phe
NM_001386303.1:c.512C>T	NP_001373232.1:p.Ser171Phe
NM_001386304.1:c.431C>T	NP_001373233.1:p.Ser144Phe
NM_001386305.1:c.431C>T	NP_001373234.1:p.Ser144Phe
NM_001386306.1:c.409-1101C>T	NP_001373235.1:n.409-1101C>T