Canonical Allele Identifier: CA360477246
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393341A>T , CM000667.2:g.96393341A>T GRCh38
NC_000005.9:g.95729045A>T , CM000667.1:g.95729045A>T GRCh37
NC_000005.8:g.95754801A>T NCBI36
NG_021161.1:g.44941T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1922T>A MANE Select ENSP00000308024.2:p.Leu641Gln
ENST00000311106.7:c.1922T>A ENSP00000308024.2:p.Leu641Gln
ENST00000508626.5:c.1781T>A ENSP00000421600.1:p.Leu594Gln
ENST00000513085.1:n.1065T>A
NM_000439.4:c.1922T>A NP_000430.3:p.Leu641Gln
NM_001177875.1:c.1781T>A NP_001171346.1:p.Leu594Gln
NR_130776.1:n.354+13689A>T
NM_000439.5:c.1922T>A MANE Select NP_000430.3:p.Leu641Gln
NM_001177875.2:c.1781T>A NP_001171346.1:p.Leu594Gln