Canonical Allele Identifier: CA343774502

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878984C>G (hg19) ; chr1:g.173909846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909846C>G , CM000663.2:g.173909846C>G	GRCh38
NC_000001.10:g.173878984C>G , CM000663.1:g.173878984C>G	GRCh37
NC_000001.9:g.172145607C>G	NCBI36
NG_012462.1:g.12533G>C , LRG_577:g.12533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.859G>C MANE Select	ENSP00000356671.3:p.Glu287Gln
ENST00000367698.3:c.859G>C	ENSP00000356671.3:p.Glu287Gln
ENST00000487183.1:n.510G>C
ENST00000617423.4:c.559+2018G>C	ENSP00000478688.1:n.559+2018G>C
NM_000488.3:c.859G>C , LRG_577t1:c.859G>C	NP_000479.1:p.Glu287Gln
XM_005245198.2:c.715G>C	XP_005245255.1:p.Glu239Gln
NM_001365052.1:c.715G>C	NP_001351981.1:p.Glu239Gln
NM_000488.4:c.859G>C MANE Select	NP_000479.1:p.Glu287Gln
NM_001365052.2:c.715G>C	NP_001351981.1:p.Glu239Gln
NM_001386302.1:c.982G>C	NP_001373231.1:p.Glu328Gln
NM_001386303.1:c.940G>C	NP_001373232.1:p.Glu314Gln
NM_001386304.1:c.838G>C	NP_001373233.1:p.Glu280Gln
NM_001386305.1:c.802G>C	NP_001373234.1:p.Glu268Gln
NM_001386306.1:c.643G>C	NP_001373235.1:p.Glu215Gln