Canonical Allele Identifier: CA2645837940

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043717-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043717C>G , CM000663.2:g.55043717C>G	GRCh38
NC_000001.10:g.55509390C>G , CM000663.1:g.55509390C>G	GRCh37
NC_000001.9:g.55281978C>G	NCBI36
NG_009061.1:g.9171C>G , LRG_275:g.9171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.208-126C>G	ENSP00000501161.2:n.208-126C>G
ENST00000710286.1:c.565-126C>G	ENSP00000518176.1:n.565-126C>G
ENST00000673726.1:c.208-126C>G	ENSP00000501004.1:n.208-126C>G
ENST00000673903.1:c.-168-126C>G	ENSP00000501257.1:n.-168-126C>G
ENST00000302118.5:c.208-126C>G MANE Select	ENSP00000303208.5:n.208-126C>G
NM_174936.3:c.208-126C>G , LRG_275t1:c.208-126C>G	NP_777596.2:n.208-126C>G
NR_110451.1:n.182+3314C>G
NM_174936.4:c.208-126C>G MANE Select	NP_777596.2:n.208-126C>G
NR_110451.2:n.182+3314C>G