Canonical Allele Identifier: CA3350211

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 3039707
• ClinVar RCV Id: RCV003931738
• dbSNP Id: rs758587953
• ExAC: 5:95734749 A / G
• gnomAD v2: 5-95734749-A-G
• gnomAD v3: 5-96399045-A-G
• gnomAD v4: 5-96399045-A-G
• MyVariant Identifiers: chr5:g.95734749A>G (hg19) ; chr5:g.96399045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399045A>G , CM000667.2:g.96399045A>G	GRCh38
NC_000005.9:g.95734749A>G , CM000667.1:g.95734749A>G	GRCh37
NC_000005.8:g.95760505A>G	NCBI36
NG_021161.1:g.39237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-9T>C MANE Select	ENSP00000308024.2:n.1431-9T>C
ENST00000311106.7:c.1431-9T>C	ENSP00000308024.2:n.1431-9T>C
ENST00000508626.5:c.1290-9T>C	ENSP00000421600.1:n.1290-9T>C
ENST00000513085.1:n.574-9T>C
NM_000439.4:c.1431-9T>C	NP_000430.3:n.1431-9T>C
NM_001177875.1:c.1290-9T>C	NP_001171346.1:n.1290-9T>C
NR_130776.1:n.354+19393A>G
NM_000439.5:c.1431-9T>C MANE Select	NP_000430.3:n.1431-9T>C
NM_001177875.2:c.1290-9T>C	NP_001171346.1:n.1290-9T>C