Canonical Allele Identifier: CA360479080

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96398986-C-G
• MyVariant Identifiers: chr5:g.95734690C>G (hg19) ; chr5:g.96398986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398986C>G , CM000667.2:g.96398986C>G	GRCh38
NC_000005.9:g.95734690C>G , CM000667.1:g.95734690C>G	GRCh37
NC_000005.8:g.95760446C>G	NCBI36
NG_021161.1:g.39296G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1481G>C MANE Select	ENSP00000308024.2:p.Cys494Ser
ENST00000311106.7:c.1481G>C	ENSP00000308024.2:p.Cys494Ser
ENST00000508626.5:c.1340G>C	ENSP00000421600.1:p.Cys447Ser
ENST00000513085.1:n.624G>C
NM_000439.4:c.1481G>C	NP_000430.3:p.Cys494Ser
NM_001177875.1:c.1340G>C	NP_001171346.1:p.Cys447Ser
NR_130776.1:n.354+19334C>G
NM_000439.5:c.1481G>C MANE Select	NP_000430.3:p.Cys494Ser
NM_001177875.2:c.1340G>C	NP_001171346.1:p.Cys447Ser