Canonical Allele Identifier: CA340480951

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529250T>A (hg19) ; chr1:g.55063577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063577T>A , CM000663.2:g.55063577T>A	GRCh38
NC_000001.10:g.55529250T>A , CM000663.1:g.55529250T>A	GRCh37
NC_000001.9:g.55301838T>A	NCBI36
NG_009061.1:g.29031T>A , LRG_275:g.29031T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*412T>A	ENSP00000501161.2:n.*412T>A
ENST00000710286.1:c.2429T>A	ENSP00000518176.1:p.Leu810His
ENST00000673903.1:c.1697T>A	ENSP00000501257.1:p.Leu566His
ENST00000302118.5:c.2072T>A MANE Select	ENSP00000303208.5:p.Leu691His
ENST00000490692.1:n.2618T>A
NM_174936.3:c.2072T>A , LRG_275t1:c.2072T>A	NP_777596.2:p.Leu691His
NR_110451.1:n.1679T>A
XM_011541193.1:c.1193T>A	XP_011539495.1:p.Leu398His
NM_174936.4:c.2072T>A MANE Select	NP_777596.2:p.Leu691His
NR_110451.2:n.1679T>A