Canonical Allele Identifier: CA210750

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18007
• ClinVar RCV Id: RCV000019623 ; RCV003886364
• dbSNP Id: rs121909548
• MyVariant Identifiers: chr1:g.173873176C>G (hg19) ; chr1:g.173904038C>G (hg38)
• PubMed: PMID:2093312 ; PMID:2349545 ; PMID:2615648 ; PMID:2794060 ; PMID:4082101 ; PMID:6871107 ; PMID:25363768

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904038C>G , CM000663.2:g.173904038C>G	GRCh38
NC_000001.10:g.173873176C>G , CM000663.1:g.173873176C>G	GRCh37
NC_000001.9:g.172139799C>G	NCBI36
NG_012462.1:g.18341G>C , LRG_577:g.18341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1246G>C MANE Select	ENSP00000356671.3:p.Ala416Pro
ENST00000367698.3:c.1246G>C	ENSP00000356671.3:p.Ala416Pro
ENST00000617423.4:c.631G>C	ENSP00000478688.1:p.Ala211Pro
NM_000488.3:c.1246G>C , LRG_577t1:c.1246G>C	NP_000479.1:p.Ala416Pro
XM_005245198.2:c.1102G>C	XP_005245255.1:p.Ala368Pro
NM_001365052.1:c.1102G>C	NP_001351981.1:p.Ala368Pro
NM_000488.4:c.1246G>C MANE Select	NP_000479.1:p.Ala416Pro
NM_001365052.2:c.1102G>C	NP_001351981.1:p.Ala368Pro
NM_001386302.1:c.1369G>C	NP_001373231.1:p.Ala457Pro
NM_001386303.1:c.1327G>C	NP_001373232.1:p.Ala443Pro
NM_001386304.1:c.1225G>C	NP_001373233.1:p.Ala409Pro
NM_001386305.1:c.1189G>C	NP_001373234.1:p.Ala397Pro
NM_001386306.1:c.1030G>C	NP_001373235.1:p.Ala344Pro