Canonical Allele Identifier: CA037132
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2454168
ClinVar RCV Id: RCV003172700
dbSNP Id: rs747002272
ExAC: 1:55505657 G / C
gnomAD v2: 1-55505657-G-C
gnomAD v4: 1-55039984-G-C
MyVariant Identifiers: chr1:g.55505657G>C (hg19) chr1:g.55039984G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039984G>C , CM000663.2:g.55039984G>C GRCh38
NC_000001.10:g.55505657G>C , CM000663.1:g.55505657G>C GRCh37
NC_000001.9:g.55278245G>C NCBI36
NG_009061.1:g.5438G>C , LRG_275:g.5438G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.147G>C ENSP00000501161.2:p.Glu49Asp
ENST00000710286.1:c.504G>C ENSP00000518176.1:p.Glu168Asp
ENST00000673726.1:c.147G>C ENSP00000501004.1:p.Glu49Asp
ENST00000302118.5:c.147G>C MANE Select ENSP00000303208.5:p.Glu49Asp
NM_174936.3:c.147G>C , LRG_275t1:c.147G>C NP_777596.2:p.Glu49Asp
NM_174936.4:c.147G>C MANE Select NP_777596.2:p.Glu49Asp
Search 100 bp 5'
Search 100 bp 3'