Canonical Allele Identifier: CA340480839

Gene: PCSK9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*355T>G	ENSP00000501161.2:n.*355T>G
ENST00000710286.1:c.2372T>G	ENSP00000518176.1:p.Val791Gly
ENST00000673903.1:c.1640T>G	ENSP00000501257.1:p.Val547Gly
ENST00000673913.1:c.865T>G	ENSP00000501161.1:n.865T>G
ENST00000302118.5:c.2015T>G MANE Select	ENSP00000303208.5:p.Val672Gly
ENST00000490692.1:n.2561T>G
NM_174936.3:c.2015T>G , LRG_275t1:c.2015T>G	NP_777596.2:p.Val672Gly
NR_110451.1:n.1622T>G
XM_011541193.1:c.1136T>G	XP_011539495.1:p.Val379Gly
NM_174936.4:c.2015T>G MANE Select	NP_777596.2:p.Val672Gly
NR_110451.2:n.1622T>G