Canonical Allele Identifier: CA2645840718

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059437-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059437T>G , CM000663.2:g.55059437T>G	GRCh38
NC_000001.10:g.55525110T>G , CM000663.1:g.55525110T>G	GRCh37
NC_000001.9:g.55297698T>G	NCBI36
NG_009061.1:g.24891T>G , LRG_275:g.24891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-49T>G	ENSP00000501161.2:n.1504-49T>G
ENST00000710286.1:c.1861-49T>G	ENSP00000518176.1:n.1861-49T>G
ENST00000673903.1:c.1129-49T>G	ENSP00000501257.1:n.1129-49T>G
ENST00000673913.1:c.244-49T>G	ENSP00000501161.1:n.244-49T>G
ENST00000302118.5:c.1504-49T>G MANE Select	ENSP00000303208.5:n.1504-49T>G
ENST00000490692.1:n.2227+790T>G
NM_174936.3:c.1504-49T>G , LRG_275t1:c.1504-49T>G	NP_777596.2:n.1504-49T>G
NR_110451.1:n.1111-49T>G
XM_011541193.1:c.625-49T>G	XP_011539495.1:n.625-49T>G
NM_174936.4:c.1504-49T>G MANE Select	NP_777596.2:n.1504-49T>G
NR_110451.2:n.1111-49T>G