Canonical Allele Identifier: CA340480912

Gene: PCSK9

Linked Data

• dbSNP Id: rs1205021346
• gnomAD v2: 1-55529231-G-A
• MyVariant Identifiers: chr1:g.55529231G>A (hg19) ; chr1:g.55063558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063558G>A , CM000663.2:g.55063558G>A	GRCh38
NC_000001.10:g.55529231G>A , CM000663.1:g.55529231G>A	GRCh37
NC_000001.9:g.55301819G>A	NCBI36
NG_009061.1:g.29012G>A , LRG_275:g.29012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*393G>A	ENSP00000501161.2:n.*393G>A
ENST00000710286.1:c.2410G>A	ENSP00000518176.1:p.Ala804Thr
ENST00000673903.1:c.1678G>A	ENSP00000501257.1:p.Ala560Thr
ENST00000302118.5:c.2053G>A MANE Select	ENSP00000303208.5:p.Ala685Thr
ENST00000490692.1:n.2599G>A
NM_174936.3:c.2053G>A , LRG_275t1:c.2053G>A	NP_777596.2:p.Ala685Thr
NR_110451.1:n.1660G>A
XM_011541193.1:c.1174G>A	XP_011539495.1:p.Ala392Thr
NM_174936.4:c.2053G>A MANE Select	NP_777596.2:p.Ala685Thr
NR_110451.2:n.1660G>A