Canonical Allele Identifier: CA1251305

Gene: SERPINC1

Linked Data

• dbSNP Id: rs759734009
• ExAC: 1:173878891 G / C
• gnomAD v2: 1-173878891-G-C
• gnomAD v4: 1-173909753-G-C
• MyVariant Identifiers: chr1:g.173878891G>C (hg19) ; chr1:g.173909753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909753G>C , CM000663.2:g.173909753G>C	GRCh38
NC_000001.10:g.173878891G>C , CM000663.1:g.173878891G>C	GRCh37
NC_000001.9:g.172145514G>C	NCBI36
NG_012462.1:g.12626C>G , LRG_577:g.12626C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.952C>G MANE Select	ENSP00000356671.3:p.Pro318Ala
ENST00000367698.3:c.952C>G	ENSP00000356671.3:p.Pro318Ala
ENST00000487183.1:n.603C>G
ENST00000617423.4:c.559+2111C>G	ENSP00000478688.1:n.559+2111C>G
NM_000488.3:c.952C>G , LRG_577t1:c.952C>G	NP_000479.1:p.Pro318Ala
XM_005245198.2:c.808C>G	XP_005245255.1:p.Pro270Ala
NM_001365052.1:c.808C>G	NP_001351981.1:p.Pro270Ala
NM_000488.4:c.952C>G MANE Select	NP_000479.1:p.Pro318Ala
NM_001365052.2:c.808C>G	NP_001351981.1:p.Pro270Ala
NM_001386302.1:c.1075C>G	NP_001373231.1:p.Pro359Ala
NM_001386303.1:c.1033C>G	NP_001373232.1:p.Pro345Ala
NM_001386304.1:c.931C>G	NP_001373233.1:p.Pro311Ala
NM_001386305.1:c.895C>G	NP_001373234.1:p.Pro299Ala
NM_001386306.1:c.736C>G	NP_001373235.1:p.Pro246Ala