Canonical Allele Identifier: CA340480837

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529193T>A (hg19) ; chr1:g.55063520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063520T>A , CM000663.2:g.55063520T>A	GRCh38
NC_000001.10:g.55529193T>A , CM000663.1:g.55529193T>A	GRCh37
NC_000001.9:g.55301781T>A	NCBI36
NG_009061.1:g.28974T>A , LRG_275:g.28974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*355T>A	ENSP00000501161.2:n.*355T>A
ENST00000710286.1:c.2372T>A	ENSP00000518176.1:p.Val791Glu
ENST00000673903.1:c.1640T>A	ENSP00000501257.1:p.Val547Glu
ENST00000673913.1:c.865T>A	ENSP00000501161.1:n.865T>A
ENST00000302118.5:c.2015T>A MANE Select	ENSP00000303208.5:p.Val672Glu
ENST00000490692.1:n.2561T>A
NM_174936.3:c.2015T>A , LRG_275t1:c.2015T>A	NP_777596.2:p.Val672Glu
NR_110451.1:n.1622T>A
XM_011541193.1:c.1136T>A	XP_011539495.1:p.Val379Glu
NM_174936.4:c.2015T>A MANE Select	NP_777596.2:p.Val672Glu
NR_110451.2:n.1622T>A