Canonical Allele Identifier: CA343774438
Gene: SERPINC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909833C>A , CM000663.2:g.173909833C>A GRCh38
NC_000001.10:g.173878971C>A , CM000663.1:g.173878971C>A GRCh37
NC_000001.9:g.172145594C>A NCBI36
NG_012462.1:g.12546G>T , LRG_577:g.12546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.872G>T MANE Select ENSP00000356671.3:p.Arg291Leu
ENST00000367698.3:c.872G>T ENSP00000356671.3:p.Arg291Leu
ENST00000487183.1:n.523G>T
ENST00000617423.4:c.559+2031G>T ENSP00000478688.1:n.559+2031G>T
NM_000488.3:c.872G>T , LRG_577t1:c.872G>T NP_000479.1:p.Arg291Leu
XM_005245198.2:c.728G>T XP_005245255.1:p.Arg243Leu
NM_001365052.1:c.728G>T NP_001351981.1:p.Arg243Leu
NM_000488.4:c.872G>T MANE Select NP_000479.1:p.Arg291Leu
NM_001365052.2:c.728G>T NP_001351981.1:p.Arg243Leu
NM_001386302.1:c.995G>T NP_001373231.1:p.Arg332Leu
NM_001386303.1:c.953G>T NP_001373232.1:p.Arg318Leu
NM_001386304.1:c.851G>T NP_001373233.1:p.Arg284Leu
NM_001386305.1:c.815G>T NP_001373234.1:p.Arg272Leu
NM_001386306.1:c.656G>T NP_001373235.1:p.Arg219Leu