Canonical Allele Identifier: CA2645837948

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043739-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043739T>G , CM000663.2:g.55043739T>G	GRCh38
NC_000001.10:g.55509412T>G , CM000663.1:g.55509412T>G	GRCh37
NC_000001.9:g.55282000T>G	NCBI36
NG_009061.1:g.9193T>G , LRG_275:g.9193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.208-104T>G	ENSP00000501161.2:n.208-104T>G
ENST00000710286.1:c.565-104T>G	ENSP00000518176.1:n.565-104T>G
ENST00000673726.1:c.208-104T>G	ENSP00000501004.1:n.208-104T>G
ENST00000673903.1:c.-168-104T>G	ENSP00000501257.1:n.-168-104T>G
ENST00000302118.5:c.208-104T>G MANE Select	ENSP00000303208.5:n.208-104T>G
NM_174936.3:c.208-104T>G , LRG_275t1:c.208-104T>G	NP_777596.2:n.208-104T>G
NR_110451.1:n.182+3336T>G
NM_174936.4:c.208-104T>G MANE Select	NP_777596.2:n.208-104T>G
NR_110451.2:n.182+3336T>G