Canonical Allele Identifier: CA343777334

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1288553458
• gnomAD v2: 1-173883731-T-C
• gnomAD v3: 1-173914593-T-C
• gnomAD v4: 1-173914593-T-C
• MyVariant Identifiers: chr1:g.173883731T>C (hg19) ; chr1:g.173914593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914593T>C , CM000663.2:g.173914593T>C	GRCh38
NC_000001.10:g.173883731T>C , CM000663.1:g.173883731T>C	GRCh37
NC_000001.9:g.172150354T>C	NCBI36
NG_012462.1:g.7786A>G , LRG_577:g.7786A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.368A>G MANE Select	ENSP00000356671.3:p.Lys123Arg
ENST00000367698.3:c.368A>G	ENSP00000356671.3:p.Lys123Arg
ENST00000487183.1:n.73A>G
ENST00000494024.1:n.594A>G
ENST00000617423.4:c.368A>G	ENSP00000478688.1:p.Lys123Arg
NM_000488.3:c.368A>G , LRG_577t1:c.368A>G	NP_000479.1:p.Lys123Arg
XM_005245198.2:c.224A>G	XP_005245255.1:p.Lys75Arg
NM_001365052.1:c.224A>G	NP_001351981.1:p.Lys75Arg
NM_000488.4:c.368A>G MANE Select	NP_000479.1:p.Lys123Arg
NM_001365052.2:c.224A>G	NP_001351981.1:p.Lys75Arg
NM_001386302.1:c.368A>G	NP_001373231.1:p.Lys123Arg
NM_001386303.1:c.449A>G	NP_001373232.1:p.Lys150Arg
NM_001386304.1:c.368A>G	NP_001373233.1:p.Lys123Arg
NM_001386305.1:c.368A>G	NP_001373234.1:p.Lys123Arg
NM_001386306.1:c.368A>G	NP_001373235.1:p.Lys123Arg