Canonical Allele Identifier: CA343772487
Gene: SERPINC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903990C>A , CM000663.2:g.173903990C>A GRCh38
NC_000001.10:g.173873128C>A , CM000663.1:g.173873128C>A GRCh37
NC_000001.9:g.172139751C>A NCBI36
NG_012462.1:g.18389G>T , LRG_577:g.18389G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1294G>T MANE Select ENSP00000356671.3:p.Val432Leu
ENST00000367698.3:c.1294G>T ENSP00000356671.3:p.Val432Leu
ENST00000617423.4:c.679G>T ENSP00000478688.1:p.Val227Leu
NM_000488.3:c.1294G>T , LRG_577t1:c.1294G>T NP_000479.1:p.Val432Leu
XM_005245198.2:c.1150G>T XP_005245255.1:p.Val384Leu
NM_001365052.1:c.1150G>T NP_001351981.1:p.Val384Leu
NM_000488.4:c.1294G>T MANE Select NP_000479.1:p.Val432Leu
NM_001365052.2:c.1150G>T NP_001351981.1:p.Val384Leu
NM_001386302.1:c.1417G>T NP_001373231.1:p.Val473Leu
NM_001386303.1:c.1375G>T NP_001373232.1:p.Val459Leu
NM_001386304.1:c.1273G>T NP_001373233.1:p.Val425Leu
NM_001386305.1:c.1237G>T NP_001373234.1:p.Val413Leu
NM_001386306.1:c.1078G>T NP_001373235.1:p.Val360Leu