Canonical Allele Identifier: CA340483543

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509532C>A (hg19) ; chr1:g.55043859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043859C>A , CM000663.2:g.55043859C>A	GRCh38
NC_000001.10:g.55509532C>A , CM000663.1:g.55509532C>A	GRCh37
NC_000001.9:g.55282120C>A	NCBI36
NG_009061.1:g.9313C>A , LRG_275:g.9313C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.224C>A	ENSP00000501161.2:p.Pro75His
ENST00000710286.1:c.581C>A	ENSP00000518176.1:p.Pro194His
ENST00000673726.1:c.224C>A	ENSP00000501004.1:p.Pro75His
ENST00000673903.1:c.-152C>A	ENSP00000501257.1:n.-152C>A
ENST00000302118.5:c.224C>A MANE Select	ENSP00000303208.5:p.Pro75His
NM_174936.3:c.224C>A , LRG_275t1:c.224C>A	NP_777596.2:p.Pro75His
NR_110451.1:n.182+3456C>A
NM_174936.4:c.224C>A MANE Select	NP_777596.2:p.Pro75His
NR_110451.2:n.182+3456C>A