Canonical Allele Identifier: CA340480409

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527172T>A (hg19) ; chr1:g.55061499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061499T>A , CM000663.2:g.55061499T>A	GRCh38
NC_000001.10:g.55527172T>A , CM000663.1:g.55527172T>A	GRCh37
NC_000001.9:g.55299760T>A	NCBI36
NG_009061.1:g.26953T>A , LRG_275:g.26953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*146T>A	ENSP00000501161.2:n.*146T>A
ENST00000710286.1:c.2163T>A	ENSP00000518176.1:p.His721Gln
ENST00000673903.1:c.1431T>A	ENSP00000501257.1:p.His477Gln
ENST00000673913.1:c.656T>A	ENSP00000501161.1:n.656T>A
ENST00000302118.5:c.1806T>A MANE Select	ENSP00000303208.5:p.His602Gln
ENST00000490692.1:n.2352T>A
NM_174936.3:c.1806T>A , LRG_275t1:c.1806T>A	NP_777596.2:p.His602Gln
NR_110451.1:n.1413T>A
XM_011541193.1:c.927T>A	XP_011539495.1:p.His309Gln
NM_174936.4:c.1806T>A MANE Select	NP_777596.2:p.His602Gln
NR_110451.2:n.1413T>A