Canonical Allele Identifier: CA3350069

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354640
• ClinVar RCV Id: RCV000342685 ; RCV000397598 ; RCV000730963 ; RCV001672668
• dbSNP Id: rs6234
• ExAC: 5:95728974 G / C
• gnomAD v2: 5-95728974-G-C
• gnomAD v3: 5-96393270-G-C
• gnomAD v4: 5-96393270-G-C
• MyVariant Identifiers: chr5:g.95728974G>C (hg19) ; chr5:g.96393270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393270G>C , CM000667.2:g.96393270G>C	GRCh38
NC_000005.9:g.95728974G>C , CM000667.1:g.95728974G>C	GRCh37
NC_000005.8:g.95754730G>C	NCBI36
NG_021161.1:g.45012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1993C>G MANE Select	ENSP00000308024.2:p.Gln665Glu
ENST00000311106.7:c.1993C>G	ENSP00000308024.2:p.Gln665Glu
ENST00000508626.5:c.1852C>G	ENSP00000421600.1:p.Gln618Glu
ENST00000513085.1:n.1136C>G
NM_000439.4:c.1993C>G	NP_000430.3:p.Gln665Glu
NM_001177875.1:c.1852C>G	NP_001171346.1:p.Gln618Glu
NR_130776.1:n.354+13618G>C
NM_000439.5:c.1993C>G MANE Select	NP_000430.3:p.Gln665Glu
NM_001177875.2:c.1852C>G	NP_001171346.1:p.Gln618Glu