Canonical Allele Identifier: CA340480638

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644777349
• gnomAD v4: 1-55063414-G-A
• MyVariant Identifiers: chr1:g.55529087G>A (hg19) ; chr1:g.55063414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063414G>A , CM000663.2:g.55063414G>A	GRCh38
NC_000001.10:g.55529087G>A , CM000663.1:g.55529087G>A	GRCh37
NC_000001.9:g.55301675G>A	NCBI36
NG_009061.1:g.28868G>A , LRG_275:g.28868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*249G>A	ENSP00000501161.2:n.*249G>A
ENST00000710286.1:c.2266G>A	ENSP00000518176.1:p.Ala756Thr
ENST00000673903.1:c.1534G>A	ENSP00000501257.1:p.Ala512Thr
ENST00000673913.1:c.759G>A	ENSP00000501161.1:n.759G>A
ENST00000302118.5:c.1909G>A MANE Select	ENSP00000303208.5:p.Ala637Thr
ENST00000490692.1:n.2455G>A
NM_174936.3:c.1909G>A , LRG_275t1:c.1909G>A	NP_777596.2:p.Ala637Thr
NR_110451.1:n.1516G>A
XM_011541193.1:c.1030G>A	XP_011539495.1:p.Ala344Thr
NM_174936.4:c.1909G>A MANE Select	NP_777596.2:p.Ala637Thr
NR_110451.2:n.1516G>A