Canonical Allele Identifier: CA340480085

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525317A>C (hg19) ; chr1:g.55059644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059644A>C , CM000663.2:g.55059644A>C	GRCh38
NC_000001.10:g.55525317A>C , CM000663.1:g.55525317A>C	GRCh37
NC_000001.9:g.55297905A>C	NCBI36
NG_009061.1:g.25098A>C , LRG_275:g.25098A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1662A>C	ENSP00000501161.2:p.Gln554His
ENST00000710286.1:c.2019A>C	ENSP00000518176.1:p.Gln673His
ENST00000673903.1:c.1287A>C	ENSP00000501257.1:p.Gln429His
ENST00000673913.1:c.402A>C	ENSP00000501161.1:p.Gln134His
ENST00000302118.5:c.1662A>C MANE Select	ENSP00000303208.5:p.Gln554His
ENST00000490692.1:n.2227+997A>C
NM_174936.3:c.1662A>C , LRG_275t1:c.1662A>C	NP_777596.2:p.Gln554His
NR_110451.1:n.1269A>C
XM_011541193.1:c.783A>C	XP_011539495.1:p.Gln261His
NM_174936.4:c.1662A>C MANE Select	NP_777596.2:p.Gln554His
NR_110451.2:n.1269A>C