Canonical Allele Identifier: CA041351

Gene: PCSK9

Linked Data

• dbSNP Id: rs771949878
• ExAC: 1:55529286 G / A
• gnomAD v2: 1-55529286-G-A
• MyVariant Identifiers: chr1:g.55529286G>A (hg19) ; chr1:g.55063613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063613G>A , CM000663.2:g.55063613G>A	GRCh38
NC_000001.10:g.55529286G>A , CM000663.1:g.55529286G>A	GRCh37
NC_000001.9:g.55301874G>A	NCBI36
NG_009061.1:g.29067G>A , LRG_275:g.29067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*448G>A	ENSP00000501161.2:n.*448G>A
ENST00000710286.1:c.*29G>A	ENSP00000518176.1:n.*29G>A
ENST00000673903.1:c.*29G>A	ENSP00000501257.1:n.*29G>A
ENST00000302118.5:c.*29G>A MANE Select	ENSP00000303208.5:n.*29G>A
ENST00000490692.1:n.2654G>A
NM_174936.3:c.*29G>A , LRG_275t1:c.*29G>A	NP_777596.2:n.*29G>A
NR_110451.1:n.1715G>A
XM_011541193.1:c.*29G>A	XP_011539495.1:n.*29G>A
NM_174936.4:c.*29G>A MANE Select	NP_777596.2:n.*29G>A
NR_110451.2:n.1715G>A