Canonical Allele Identifier: CA360483056
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416066C>A , CM000667.2:g.96416066C>A GRCh38
NC_000005.9:g.95751770C>A , CM000667.1:g.95751770C>A GRCh37
NC_000005.8:g.95777526C>A NCBI36
NG_021161.1:g.22216G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.676G>T MANE Select ENSP00000308024.2:p.Gly226Trp
ENST00000311106.7:c.676G>T ENSP00000308024.2:p.Gly226Trp
ENST00000508626.5:c.535G>T ENSP00000421600.1:p.Gly179Trp
NM_000439.4:c.676G>T NP_000430.3:p.Gly226Trp
NM_001177875.1:c.535G>T NP_001171346.1:p.Gly179Trp
NR_130776.1:n.354+36414C>A
NM_000439.5:c.676G>T MANE Select NP_000430.3:p.Gly226Trp
NM_001177875.2:c.535G>T NP_001171346.1:p.Gly179Trp