Canonical Allele Identifier: CA340480919

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529235A>T (hg19) ; chr1:g.55063562A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063562A>T , CM000663.2:g.55063562A>T	GRCh38
NC_000001.10:g.55529235A>T , CM000663.1:g.55529235A>T	GRCh37
NC_000001.9:g.55301823A>T	NCBI36
NG_009061.1:g.29016A>T , LRG_275:g.29016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*397A>T	ENSP00000501161.2:n.*397A>T
ENST00000710286.1:c.2414A>T	ENSP00000518176.1:p.Gln805Leu
ENST00000673903.1:c.1682A>T	ENSP00000501257.1:p.Gln561Leu
ENST00000302118.5:c.2057A>T MANE Select	ENSP00000303208.5:p.Gln686Leu
ENST00000490692.1:n.2603A>T
NM_174936.3:c.2057A>T , LRG_275t1:c.2057A>T	NP_777596.2:p.Gln686Leu
NR_110451.1:n.1664A>T
XM_011541193.1:c.1178A>T	XP_011539495.1:p.Gln393Leu
NM_174936.4:c.2057A>T MANE Select	NP_777596.2:p.Gln686Leu
NR_110451.2:n.1664A>T