Canonical Allele Identifier: CA915943678
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627017
ClinVar RCV Id: RCV000851716
dbSNP Id: rs1572092076

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914791dup , CM000663.2:g.173914791dup GRCh38
NC_000001.10:g.173883929dup , CM000663.1:g.173883929dup GRCh37
NC_000001.9:g.172150552dup NCBI36
NG_012462.1:g.7591dup , LRG_577:g.7591dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.173dup MANE Select ENSP00000356671.3:p.Glu59GlyfsTer6
ENST00000367698.3:c.173dup ENSP00000356671.3:p.Glu59GlyfsTer6
ENST00000494024.1:n.399dup
ENST00000617423.4:c.173dup ENSP00000478688.1:p.Glu59GlyfsTer6
NM_000488.3:c.173dup , LRG_577t1:c.173dup NP_000479.1:p.Glu59GlyfsTer6
XM_005245198.2:c.29dup XP_005245255.1:p.Glu11GlyfsTer6
NM_001365052.1:c.29dup NP_001351981.1:p.Glu11GlyfsTer6
NM_000488.4:c.173dup MANE Select NP_000479.1:p.Glu59GlyfsTer6
NM_001365052.2:c.29dup NP_001351981.1:p.Glu11GlyfsTer6
NM_001386302.1:c.173dup NP_001373231.1:p.Glu59GlyfsTer6
NM_001386303.1:c.254dup NP_001373232.1:p.Glu86GlyfsTer6
NM_001386304.1:c.173dup NP_001373233.1:p.Glu59GlyfsTer6
NM_001386305.1:c.173dup NP_001373234.1:p.Glu59GlyfsTer6
NM_001386306.1:c.173dup NP_001373235.1:p.Glu59GlyfsTer6