Canonical Allele Identifier: CA1565404442
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399034G= , CM000667.2:g.96399034G= GRCh38
NC_000005.9:g.95734738G= , CM000667.1:g.95734738G= GRCh37
NC_000005.8:g.95760494G= NCBI36
NG_021161.1:g.39248C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1433C= MANE Select ENSP00000308024.2:p.Ala478=
ENST00000311106.7:c.1433C= ENSP00000308024.2:p.Ala478=
ENST00000508626.5:c.1292C= ENSP00000421600.1:p.Ala431=
ENST00000513085.1:n.576C=
NM_000439.4:c.1433C= NP_000430.3:p.Ala478=
NM_001177875.1:c.1292C= NP_001171346.1:p.Ala431=
NR_130776.1:n.354+19382G=
NM_000439.5:c.1433C= MANE Select NP_000430.3:p.Ala478=
NM_001177875.2:c.1292C= NP_001171346.1:p.Ala431=