Canonical Allele Identifier: CA340480431

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527183T>G (hg19) ; chr1:g.55061510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061510T>G , CM000663.2:g.55061510T>G	GRCh38
NC_000001.10:g.55527183T>G , CM000663.1:g.55527183T>G	GRCh37
NC_000001.9:g.55299771T>G	NCBI36
NG_009061.1:g.26964T>G , LRG_275:g.26964T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*157T>G	ENSP00000501161.2:n.*157T>G
ENST00000710286.1:c.2174T>G	ENSP00000518176.1:p.Leu725Arg
ENST00000673903.1:c.1442T>G	ENSP00000501257.1:p.Leu481Arg
ENST00000673913.1:c.667T>G	ENSP00000501161.1:n.667T>G
ENST00000302118.5:c.1817T>G MANE Select	ENSP00000303208.5:p.Leu606Arg
ENST00000490692.1:n.2363T>G
NM_174936.3:c.1817T>G , LRG_275t1:c.1817T>G	NP_777596.2:p.Leu606Arg
NR_110451.1:n.1424T>G
XM_011541193.1:c.938T>G	XP_011539495.1:p.Leu313Arg
NM_174936.4:c.1817T>G MANE Select	NP_777596.2:p.Leu606Arg
NR_110451.2:n.1424T>G