Canonical Allele Identifier: CA360479067

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96398981-C-T
• COSMIC: COSM3618858
• MyVariant Identifiers: chr5:g.95734685C>T (hg19) ; chr5:g.96398981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398981C>T , CM000667.2:g.96398981C>T	GRCh38
NC_000005.9:g.95734685C>T , CM000667.1:g.95734685C>T	GRCh37
NC_000005.8:g.95760441C>T	NCBI36
NG_021161.1:g.39301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1486G>A MANE Select	ENSP00000308024.2:p.Gly496Arg
ENST00000311106.7:c.1486G>A	ENSP00000308024.2:p.Gly496Arg
ENST00000508626.5:c.1345G>A	ENSP00000421600.1:p.Gly449Arg
ENST00000513085.1:n.629G>A
NM_000439.4:c.1486G>A	NP_000430.3:p.Gly496Arg
NM_001177875.1:c.1345G>A	NP_001171346.1:p.Gly449Arg
NR_130776.1:n.354+19329C>T
NM_000439.5:c.1486G>A MANE Select	NP_000430.3:p.Gly496Arg
NM_001177875.2:c.1345G>A	NP_001171346.1:p.Gly449Arg