Canonical Allele Identifier: CA343772824
Community Standard Title: NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173907497G>A , CM000663.2:g.173907497G>A GRCh38
NC_000001.10:g.173876635G>A , CM000663.1:g.173876635G>A GRCh37
NC_000001.9:g.172143258G>A NCBI36
NG_012462.1:g.14882C>T , LRG_577:g.14882C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.1171C>T MANE Select NP_000479.1:p.Arg391Ter
ENST00000367698.4:c.1171C>T MANE Select ENSP00000356671.3:p.Arg391Ter
NM_000488.3:c.1171C>T , LRG_577t1:c.1171C>T NP_000479.1:p.Arg391Ter
NM_001365052.1:c.1027C>T NP_001351981.1:p.Arg343Ter
NM_001365052.2:c.1027C>T NP_001351981.1:p.Arg343Ter
NM_001386302.1:c.1294C>T NP_001373231.1:p.Arg432Ter
NM_001386303.1:c.1252C>T NP_001373232.1:p.Arg418Ter
NM_001386304.1:c.1150C>T NP_001373233.1:p.Arg384Ter
NM_001386305.1:c.1114C>T NP_001373234.1:p.Arg372Ter
NM_001386306.1:c.955C>T NP_001373235.1:p.Arg319Ter
ENST00000367698.3:c.1171C>T ENSP00000356671.3:p.Arg391Ter
ENST00000617423.4:c.560-4C>T ENSP00000478688.1:n.560-4C>T
XM_005245198.2:c.1027C>T XP_005245255.1:p.Arg343Ter