Canonical Allele Identifier: CA340483823

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509674C>A (hg19) ; chr1:g.55044001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044001C>A , CM000663.2:g.55044001C>A	GRCh38
NC_000001.10:g.55509674C>A , CM000663.1:g.55509674C>A	GRCh37
NC_000001.9:g.55282262C>A	NCBI36
NG_009061.1:g.9455C>A , LRG_275:g.9455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.366C>A	ENSP00000501161.2:p.Phe122Leu
ENST00000710286.1:c.723C>A	ENSP00000518176.1:p.Phe241Leu
ENST00000673662.1:n.36C>A
ENST00000673726.1:c.366C>A	ENSP00000501004.1:p.Phe122Leu
ENST00000673903.1:c.-10C>A	ENSP00000501257.1:n.-10C>A
ENST00000302118.5:c.366C>A MANE Select	ENSP00000303208.5:p.Phe122Leu
NM_174936.3:c.366C>A , LRG_275t1:c.366C>A	NP_777596.2:p.Phe122Leu
NR_110451.1:n.182+3598C>A
NM_174936.4:c.366C>A MANE Select	NP_777596.2:p.Phe122Leu
NR_110451.2:n.182+3598C>A