Canonical Allele Identifier: CA340480531

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527229G>C (hg19) ; chr1:g.55061556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061556G>C , CM000663.2:g.55061556G>C	GRCh38
NC_000001.10:g.55527229G>C , CM000663.1:g.55527229G>C	GRCh37
NC_000001.9:g.55299817G>C	NCBI36
NG_009061.1:g.27010G>C , LRG_275:g.27010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*203G>C	ENSP00000501161.2:n.*203G>C
ENST00000710286.1:c.2220G>C	ENSP00000518176.1:p.Gln740His
ENST00000673903.1:c.1488G>C	ENSP00000501257.1:p.Gln496His
ENST00000673913.1:c.713G>C	ENSP00000501161.1:n.713G>C
ENST00000302118.5:c.1863G>C MANE Select	ENSP00000303208.5:p.Gln621His
ENST00000490692.1:n.2409G>C
NM_174936.3:c.1863G>C , LRG_275t1:c.1863G>C	NP_777596.2:p.Gln621His
NR_110451.1:n.1470G>C
XM_011541193.1:c.984G>C	XP_011539495.1:p.Gln328His
NM_174936.4:c.1863G>C MANE Select	NP_777596.2:p.Gln621His
NR_110451.2:n.1470G>C