Canonical Allele Identifier: CA343774199

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909773-A-G
• MyVariant Identifiers: chr1:g.173878911A>G (hg19) ; chr1:g.173909773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909773A>G , CM000663.2:g.173909773A>G	GRCh38
NC_000001.10:g.173878911A>G , CM000663.1:g.173878911A>G	GRCh37
NC_000001.9:g.172145534A>G	NCBI36
NG_012462.1:g.12606T>C , LRG_577:g.12606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.932T>C MANE Select	ENSP00000356671.3:p.Ile311Thr
ENST00000367698.3:c.932T>C	ENSP00000356671.3:p.Ile311Thr
ENST00000487183.1:n.583T>C
ENST00000617423.4:c.559+2091T>C	ENSP00000478688.1:n.559+2091T>C
NM_000488.3:c.932T>C , LRG_577t1:c.932T>C	NP_000479.1:p.Ile311Thr
XM_005245198.2:c.788T>C	XP_005245255.1:p.Ile263Thr
NM_001365052.1:c.788T>C	NP_001351981.1:p.Ile263Thr
NM_000488.4:c.932T>C MANE Select	NP_000479.1:p.Ile311Thr
NM_001365052.2:c.788T>C	NP_001351981.1:p.Ile263Thr
NM_001386302.1:c.1055T>C	NP_001373231.1:p.Ile352Thr
NM_001386303.1:c.1013T>C	NP_001373232.1:p.Ile338Thr
NM_001386304.1:c.911T>C	NP_001373233.1:p.Ile304Thr
NM_001386305.1:c.875T>C	NP_001373234.1:p.Ile292Thr
NM_001386306.1:c.716T>C	NP_001373235.1:p.Ile239Thr