Canonical Allele Identifier: CA340483569

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509544T>G (hg19) ; chr1:g.55043871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043871T>G , CM000663.2:g.55043871T>G	GRCh38
NC_000001.10:g.55509544T>G , CM000663.1:g.55509544T>G	GRCh37
NC_000001.9:g.55282132T>G	NCBI36
NG_009061.1:g.9325T>G , LRG_275:g.9325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.236T>G	ENSP00000501161.2:p.Val79Gly
ENST00000710286.1:c.593T>G	ENSP00000518176.1:p.Val198Gly
ENST00000673726.1:c.236T>G	ENSP00000501004.1:p.Val79Gly
ENST00000673903.1:c.-140T>G	ENSP00000501257.1:n.-140T>G
ENST00000302118.5:c.236T>G MANE Select	ENSP00000303208.5:p.Val79Gly
NM_174936.3:c.236T>G , LRG_275t1:c.236T>G	NP_777596.2:p.Val79Gly
NR_110451.1:n.182+3468T>G
NM_174936.4:c.236T>G MANE Select	NP_777596.2:p.Val79Gly
NR_110451.2:n.182+3468T>G