Canonical Allele Identifier: CA523275417

Gene: PCSK9

Linked Data

• dbSNP Id: rs1270702052
• gnomAD v2: 1-55509743-A-G
• gnomAD v4: 1-55044070-A-G
• MyVariant Identifiers: chr1:g.55509743A>G (hg19) ; chr1:g.55044070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044070A>G , CM000663.2:g.55044070A>G	GRCh38
NC_000001.10:g.55509743A>G , CM000663.1:g.55509743A>G	GRCh37
NC_000001.9:g.55282331A>G	NCBI36
NG_009061.1:g.9524A>G , LRG_275:g.9524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.399+36A>G	ENSP00000501161.2:n.399+36A>G
ENST00000710286.1:c.756+36A>G	ENSP00000518176.1:n.756+36A>G
ENST00000673662.1:n.69+36A>G
ENST00000673726.1:c.399+36A>G	ENSP00000501004.1:n.399+36A>G
ENST00000673903.1:c.24+36A>G	ENSP00000501257.1:n.24+36A>G
ENST00000302118.5:c.399+36A>G MANE Select	ENSP00000303208.5:n.399+36A>G
NM_174936.3:c.399+36A>G , LRG_275t1:c.399+36A>G	NP_777596.2:n.399+36A>G
NR_110451.1:n.182+3667A>G
NM_174936.4:c.399+36A>G MANE Select	NP_777596.2:n.399+36A>G
NR_110451.2:n.182+3667A>G