Canonical Allele Identifier: CA343772676

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173904054-T-G
• MyVariant Identifiers: chr1:g.173873192T>G (hg19) ; chr1:g.173904054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904054T>G , CM000663.2:g.173904054T>G	GRCh38
NC_000001.10:g.173873192T>G , CM000663.1:g.173873192T>G	GRCh37
NC_000001.9:g.172139815T>G	NCBI36
NG_012462.1:g.18325A>C , LRG_577:g.18325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1230A>C MANE Select	ENSP00000356671.3:p.Glu410Asp
ENST00000367698.3:c.1230A>C	ENSP00000356671.3:p.Glu410Asp
ENST00000617423.4:c.615A>C	ENSP00000478688.1:p.Glu205Asp
NM_000488.3:c.1230A>C , LRG_577t1:c.1230A>C	NP_000479.1:p.Glu410Asp
XM_005245198.2:c.1086A>C	XP_005245255.1:p.Glu362Asp
NM_001365052.1:c.1086A>C	NP_001351981.1:p.Glu362Asp
NM_000488.4:c.1230A>C MANE Select	NP_000479.1:p.Glu410Asp
NM_001365052.2:c.1086A>C	NP_001351981.1:p.Glu362Asp
NM_001386302.1:c.1353A>C	NP_001373231.1:p.Glu451Asp
NM_001386303.1:c.1311A>C	NP_001373232.1:p.Glu437Asp
NM_001386304.1:c.1209A>C	NP_001373233.1:p.Glu403Asp
NM_001386305.1:c.1173A>C	NP_001373234.1:p.Glu391Asp
NM_001386306.1:c.1014A>C	NP_001373235.1:p.Glu338Asp