Canonical Allele Identifier: CA210754
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18010
ClinVar RCV Id: RCV000019626
dbSNP Id: rs121909550
COSMIC: COSM76381

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904007G>A , CM000663.2:g.173904007G>A GRCh38
NC_000001.10:g.173873145G>A , CM000663.1:g.173873145G>A GRCh37
NC_000001.9:g.172139768G>A NCBI36
NG_012462.1:g.18372C>T , LRG_577:g.18372C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.3:c.1277C>T ENSP00000356671.3:p.Ser426Leu
ENST00000617423.4:c.662C>T ENSP00000478688.1:p.Ser221Leu
NM_000488.3:c.1277C>T , LRG_577t1:c.1277C>T NP_000479.1:p.Ser426Leu
XM_005245198.2:c.1133C>T XP_005245255.1:p.Ser378Leu
NM_001365052.1:c.1133C>T NP_001351981.1:p.Ser378Leu
NM_000488.4:c.1277C>T MANE Select NP_000479.1:p.Ser426Leu
NM_001365052.2:c.1133C>T NP_001351981.1:p.Ser378Leu
NM_001386302.1:c.1400C>T NP_001373231.1:p.Ser467Leu
NM_001386303.1:c.1358C>T NP_001373232.1:p.Ser453Leu
NM_001386304.1:c.1256C>T NP_001373233.1:p.Ser419Leu
NM_001386305.1:c.1220C>T NP_001373234.1:p.Ser407Leu
NM_001386306.1:c.1061C>T NP_001373235.1:p.Ser354Leu