Canonical Allele Identifier: CA1001920873

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644745958
• gnomAD v3: 1-55059792-G-A
• gnomAD v4: 1-55059792-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059792G>A , CM000663.2:g.55059792G>A	GRCh38
NC_000001.10:g.55525465G>A , CM000663.1:g.55525465G>A	GRCh37
NC_000001.9:g.55298053G>A	NCBI36
NG_009061.1:g.25246G>A , LRG_275:g.25246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+129G>A	ENSP00000501161.2:n.1681+129G>A
ENST00000710286.1:c.2038+129G>A	ENSP00000518176.1:n.2038+129G>A
ENST00000673903.1:c.1306+129G>A	ENSP00000501257.1:n.1306+129G>A
ENST00000673913.1:c.421+129G>A	ENSP00000501161.1:n.421+129G>A
ENST00000302118.5:c.1681+129G>A MANE Select	ENSP00000303208.5:n.1681+129G>A
ENST00000490692.1:n.2227+1145G>A
NM_174936.3:c.1681+129G>A , LRG_275t1:c.1681+129G>A	NP_777596.2:n.1681+129G>A
NR_110451.1:n.1288+129G>A
XM_011541193.1:c.802+129G>A	XP_011539495.1:n.802+129G>A
NM_174936.4:c.1681+129G>A MANE Select	NP_777596.2:n.1681+129G>A
NR_110451.2:n.1288+129G>A