Canonical Allele Identifier: CA340483867

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509695C>G (hg19) ; chr1:g.55044022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044022C>G , CM000663.2:g.55044022C>G	GRCh38
NC_000001.10:g.55509695C>G , CM000663.1:g.55509695C>G	GRCh37
NC_000001.9:g.55282283C>G	NCBI36
NG_009061.1:g.9476C>G , LRG_275:g.9476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.387C>G	ENSP00000501161.2:p.Asp129Glu
ENST00000710286.1:c.744C>G	ENSP00000518176.1:p.Asp248Glu
ENST00000673662.1:n.57C>G
ENST00000673726.1:c.387C>G	ENSP00000501004.1:p.Asp129Glu
ENST00000673903.1:c.12C>G	ENSP00000501257.1:p.Asp4Glu
ENST00000302118.5:c.387C>G MANE Select	ENSP00000303208.5:p.Asp129Glu
NM_174936.3:c.387C>G , LRG_275t1:c.387C>G	NP_777596.2:p.Asp129Glu
NR_110451.1:n.182+3619C>G
NM_174936.4:c.387C>G MANE Select	NP_777596.2:p.Asp129Glu
NR_110451.2:n.182+3619C>G