Canonical Allele Identifier: CA343772493

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173903991-C-A
• MyVariant Identifiers: chr1:g.173873129C>A (hg19) ; chr1:g.173903991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903991C>A , CM000663.2:g.173903991C>A	GRCh38
NC_000001.10:g.173873129C>A , CM000663.1:g.173873129C>A	GRCh37
NC_000001.9:g.172139752C>A	NCBI36
NG_012462.1:g.18388G>T , LRG_577:g.18388G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1293G>T MANE Select	ENSP00000356671.3:p.Arg431Ser
ENST00000367698.3:c.1293G>T	ENSP00000356671.3:p.Arg431Ser
ENST00000617423.4:c.678G>T	ENSP00000478688.1:p.Arg226Ser
NM_000488.3:c.1293G>T , LRG_577t1:c.1293G>T	NP_000479.1:p.Arg431Ser
XM_005245198.2:c.1149G>T	XP_005245255.1:p.Arg383Ser
NM_001365052.1:c.1149G>T	NP_001351981.1:p.Arg383Ser
NM_000488.4:c.1293G>T MANE Select	NP_000479.1:p.Arg431Ser
NM_001365052.2:c.1149G>T	NP_001351981.1:p.Arg383Ser
NM_001386302.1:c.1416G>T	NP_001373231.1:p.Arg472Ser
NM_001386303.1:c.1374G>T	NP_001373232.1:p.Arg458Ser
NM_001386304.1:c.1272G>T	NP_001373233.1:p.Arg424Ser
NM_001386305.1:c.1236G>T	NP_001373234.1:p.Arg412Ser
NM_001386306.1:c.1077G>T	NP_001373235.1:p.Arg359Ser