Canonical Allele Identifier: CA343775565
Community Standard Title: NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173910837C>A , CM000663.2:g.173910837C>A GRCh38
NC_000001.10:g.173879975C>A , CM000663.1:g.173879975C>A GRCh37
NC_000001.9:g.172146598C>A NCBI36
NG_012462.1:g.11542G>T , LRG_577:g.11542G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.679G>T MANE Select NP_000479.1:p.Glu227Ter
ENST00000367698.4:c.679G>T MANE Select ENSP00000356671.3:p.Glu227Ter
NM_000488.3:c.679G>T , LRG_577t1:c.679G>T NP_000479.1:p.Glu227Ter
NM_001365052.1:c.535G>T NP_001351981.1:p.Glu179Ter
NM_001365052.2:c.535G>T NP_001351981.1:p.Glu179Ter
NM_001386302.1:c.679G>T NP_001373231.1:p.Glu227Ter
NM_001386303.1:c.760G>T NP_001373232.1:p.Glu254Ter
NM_001386304.1:c.679G>T NP_001373233.1:p.Glu227Ter
NM_001386305.1:c.679G>T NP_001373234.1:p.Glu227Ter
NM_001386306.1:c.463G>T NP_001373235.1:p.Glu155Ter
ENST00000367698.3:c.679G>T ENSP00000356671.3:p.Glu227Ter
ENST00000487183.1:n.330G>T
ENST00000617423.4:c.559+1027G>T ENSP00000478688.1:n.559+1027G>T
XM_005245198.2:c.535G>T XP_005245255.1:p.Glu179Ter