Canonical Allele Identifier: CA340480430

Gene: PCSK9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*157T>A	ENSP00000501161.2:n.*157T>A
ENST00000710286.1:c.2174T>A	ENSP00000518176.1:p.Leu725Gln
ENST00000673903.1:c.1442T>A	ENSP00000501257.1:p.Leu481Gln
ENST00000673913.1:c.667T>A	ENSP00000501161.1:n.667T>A
ENST00000302118.5:c.1817T>A MANE Select	ENSP00000303208.5:p.Leu606Gln
ENST00000490692.1:n.2363T>A
NM_174936.3:c.1817T>A , LRG_275t1:c.1817T>A	NP_777596.2:p.Leu606Gln
NR_110451.1:n.1424T>A
XM_011541193.1:c.938T>A	XP_011539495.1:p.Leu313Gln
NM_174936.4:c.1817T>A MANE Select	NP_777596.2:p.Leu606Gln
NR_110451.2:n.1424T>A