Canonical Allele Identifier: CA343773543
Gene: SERPINC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909591G>T , CM000663.2:g.173909591G>T GRCh38
NC_000001.10:g.173878729G>T , CM000663.1:g.173878729G>T GRCh37
NC_000001.9:g.172145352G>T NCBI36
NG_012462.1:g.12788C>A , LRG_577:g.12788C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1114C>A MANE Select ENSP00000356671.3:p.Leu372Ile
ENST00000367698.3:c.1114C>A ENSP00000356671.3:p.Leu372Ile
ENST00000617423.4:c.560-2098C>A ENSP00000478688.1:n.560-2098C>A
NM_000488.3:c.1114C>A , LRG_577t1:c.1114C>A NP_000479.1:p.Leu372Ile
XM_005245198.2:c.970C>A XP_005245255.1:p.Leu324Ile
NM_001365052.1:c.970C>A NP_001351981.1:p.Leu324Ile
NM_000488.4:c.1114C>A MANE Select NP_000479.1:p.Leu372Ile
NM_001365052.2:c.970C>A NP_001351981.1:p.Leu324Ile
NM_001386302.1:c.1237C>A NP_001373231.1:p.Leu413Ile
NM_001386303.1:c.1195C>A NP_001373232.1:p.Leu399Ile
NM_001386304.1:c.1093C>A NP_001373233.1:p.Leu365Ile
NM_001386305.1:c.1057C>A NP_001373234.1:p.Leu353Ile
NM_001386306.1:c.898C>A NP_001373235.1:p.Leu300Ile