Canonical Allele Identifier: CA340480353

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527147C>G (hg19) ; chr1:g.55061474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061474C>G , CM000663.2:g.55061474C>G	GRCh38
NC_000001.10:g.55527147C>G , CM000663.1:g.55527147C>G	GRCh37
NC_000001.9:g.55299735C>G	NCBI36
NG_009061.1:g.26928C>G , LRG_275:g.26928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*121C>G	ENSP00000501161.2:n.*121C>G
ENST00000710286.1:c.2138C>G	ENSP00000518176.1:p.Ala713Gly
ENST00000673903.1:c.1406C>G	ENSP00000501257.1:p.Ala469Gly
ENST00000673913.1:c.631C>G	ENSP00000501161.1:n.631C>G
ENST00000302118.5:c.1781C>G MANE Select	ENSP00000303208.5:p.Ala594Gly
ENST00000490692.1:n.2327C>G
NM_174936.3:c.1781C>G , LRG_275t1:c.1781C>G	NP_777596.2:p.Ala594Gly
NR_110451.1:n.1388C>G
XM_011541193.1:c.902C>G	XP_011539495.1:p.Ala301Gly
NM_174936.4:c.1781C>G MANE Select	NP_777596.2:p.Ala594Gly
NR_110451.2:n.1388C>G