Canonical Allele Identifier: CA1251220

Gene: SERPINC1

Linked Data

• dbSNP Id: rs770330164
• ExAC: 1:173873135 G / A
• gnomAD v2: 1-173873135-G-A
• gnomAD v4: 1-173903997-G-A
• MyVariant Identifiers: chr1:g.173873135G>A (hg19) ; chr1:g.173903997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903997G>A , CM000663.2:g.173903997G>A	GRCh38
NC_000001.10:g.173873135G>A , CM000663.1:g.173873135G>A	GRCh37
NC_000001.9:g.172139758G>A	NCBI36
NG_012462.1:g.18382C>T , LRG_577:g.18382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1287C>T MANE Select	ENSP00000356671.3:p.Pro429=
ENST00000367698.3:c.1287C>T	ENSP00000356671.3:p.Pro429=
ENST00000617423.4:c.672C>T	ENSP00000478688.1:p.Pro224=
NM_000488.3:c.1287C>T , LRG_577t1:c.1287C>T	NP_000479.1:p.Pro429=
XM_005245198.2:c.1143C>T	XP_005245255.1:p.Pro381=
NM_001365052.1:c.1143C>T	NP_001351981.1:p.Pro381=
NM_000488.4:c.1287C>T MANE Select	NP_000479.1:p.Pro429=
NM_001365052.2:c.1143C>T	NP_001351981.1:p.Pro381=
NM_001386302.1:c.1410C>T	NP_001373231.1:p.Pro470=
NM_001386303.1:c.1368C>T	NP_001373232.1:p.Pro456=
NM_001386304.1:c.1266C>T	NP_001373233.1:p.Pro422=
NM_001386305.1:c.1230C>T	NP_001373234.1:p.Pro410=
NM_001386306.1:c.1071C>T	NP_001373235.1:p.Pro357=