Canonical Allele Identifier: CA340479822

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525214T>A (hg19) ; chr1:g.55059541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059541T>A , CM000663.2:g.55059541T>A	GRCh38
NC_000001.10:g.55525214T>A , CM000663.1:g.55525214T>A	GRCh37
NC_000001.9:g.55297802T>A	NCBI36
NG_009061.1:g.24995T>A , LRG_275:g.24995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1559T>A	ENSP00000501161.2:p.Val520Asp
ENST00000710286.1:c.1916T>A	ENSP00000518176.1:p.Val639Asp
ENST00000673903.1:c.1184T>A	ENSP00000501257.1:p.Val395Asp
ENST00000673913.1:c.299T>A	ENSP00000501161.1:p.Val100Asp
ENST00000302118.5:c.1559T>A MANE Select	ENSP00000303208.5:p.Val520Asp
ENST00000490692.1:n.2227+894T>A
NM_174936.3:c.1559T>A , LRG_275t1:c.1559T>A	NP_777596.2:p.Val520Asp
NR_110451.1:n.1166T>A
XM_011541193.1:c.680T>A	XP_011539495.1:p.Val227Asp
NM_174936.4:c.1559T>A MANE Select	NP_777596.2:p.Val520Asp
NR_110451.2:n.1166T>A