Canonical Allele Identifier: CA360478972

Gene: PCSK1

Linked Data

• dbSNP Id: rs866860686
• gnomAD v3: 5-96398939-C-G
• gnomAD v4: 5-96398939-C-G
• MyVariant Identifiers: chr5:g.95734643C>G (hg19) ; chr5:g.96398939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398939C>G , CM000667.2:g.96398939C>G	GRCh38
NC_000005.9:g.95734643C>G , CM000667.1:g.95734643C>G	GRCh37
NC_000005.8:g.95760399C>G	NCBI36
NG_021161.1:g.39343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1528G>C MANE Select	ENSP00000308024.2:p.Glu510Gln
ENST00000311106.7:c.1528G>C	ENSP00000308024.2:p.Glu510Gln
ENST00000508626.5:c.1387G>C	ENSP00000421600.1:p.Glu463Gln
ENST00000513085.1:n.671G>C
NM_000439.4:c.1528G>C	NP_000430.3:p.Glu510Gln
NM_001177875.1:c.1387G>C	NP_001171346.1:p.Glu463Gln
NR_130776.1:n.354+19287C>G
NM_000439.5:c.1528G>C MANE Select	NP_000430.3:p.Glu510Gln
NM_001177875.2:c.1387G>C	NP_001171346.1:p.Glu463Gln