Canonical Allele Identifier: CA340480963

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063582-T-G
• MyVariant Identifiers: chr1:g.55529255T>G (hg19) ; chr1:g.55063582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063582T>G , CM000663.2:g.55063582T>G	GRCh38
NC_000001.10:g.55529255T>G , CM000663.1:g.55529255T>G	GRCh37
NC_000001.9:g.55301843T>G	NCBI36
NG_009061.1:g.29036T>G , LRG_275:g.29036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*417T>G	ENSP00000501161.2:n.*417T>G
ENST00000710286.1:c.2434T>G	ENSP00000518176.1:p.Ter812Gly
ENST00000673903.1:c.1702T>G	ENSP00000501257.1:p.Ter568Gly
ENST00000302118.5:c.2077T>G MANE Select	ENSP00000303208.5:p.Ter693Gly
ENST00000490692.1:n.2623T>G
NM_174936.3:c.2077T>G , LRG_275t1:c.2077T>G	NP_777596.2:p.Ter693Gly
NR_110451.1:n.1684T>G
XM_011541193.1:c.1198T>G	XP_011539495.1:p.Ter400Gly
NM_174936.4:c.2077T>G MANE Select	NP_777596.2:p.Ter693Gly
NR_110451.2:n.1684T>G