Canonical Allele Identifier: CA2645841627

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059735-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059735T>G , CM000663.2:g.55059735T>G	GRCh38
NC_000001.10:g.55525408T>G , CM000663.1:g.55525408T>G	GRCh37
NC_000001.9:g.55297996T>G	NCBI36
NG_009061.1:g.25189T>G , LRG_275:g.25189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+72T>G	ENSP00000501161.2:n.1681+72T>G
ENST00000710286.1:c.2038+72T>G	ENSP00000518176.1:n.2038+72T>G
ENST00000673903.1:c.1306+72T>G	ENSP00000501257.1:n.1306+72T>G
ENST00000673913.1:c.421+72T>G	ENSP00000501161.1:n.421+72T>G
ENST00000302118.5:c.1681+72T>G MANE Select	ENSP00000303208.5:n.1681+72T>G
ENST00000490692.1:n.2227+1088T>G
NM_174936.3:c.1681+72T>G , LRG_275t1:c.1681+72T>G	NP_777596.2:n.1681+72T>G
NR_110451.1:n.1288+72T>G
XM_011541193.1:c.802+72T>G	XP_011539495.1:n.802+72T>G
NM_174936.4:c.1681+72T>G MANE Select	NP_777596.2:n.1681+72T>G
NR_110451.2:n.1288+72T>G