Canonical Allele Identifier: CA523275372

Gene: PCSK9

Linked Data

• dbSNP Id: rs1317027050
• gnomAD v2: 1-55509376-G-A
• gnomAD v3: 1-55043703-G-A
• gnomAD v4: 1-55043703-G-A
• MyVariant Identifiers: chr1:g.55509376G>A (hg19) ; chr1:g.55043703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043703G>A , CM000663.2:g.55043703G>A	GRCh38
NC_000001.10:g.55509376G>A , CM000663.1:g.55509376G>A	GRCh37
NC_000001.9:g.55281964G>A	NCBI36
NG_009061.1:g.9157G>A , LRG_275:g.9157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.208-140G>A	ENSP00000501161.2:n.208-140G>A
ENST00000710286.1:c.565-140G>A	ENSP00000518176.1:n.565-140G>A
ENST00000673726.1:c.208-140G>A	ENSP00000501004.1:n.208-140G>A
ENST00000673903.1:c.-168-140G>A	ENSP00000501257.1:n.-168-140G>A
ENST00000302118.5:c.208-140G>A MANE Select	ENSP00000303208.5:n.208-140G>A
NM_174936.3:c.208-140G>A , LRG_275t1:c.208-140G>A	NP_777596.2:n.208-140G>A
NR_110451.1:n.182+3300G>A
NM_174936.4:c.208-140G>A MANE Select	NP_777596.2:n.208-140G>A
NR_110451.2:n.182+3300G>A