Canonical Allele Identifier: CA340480654

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529096G>T (hg19) ; chr1:g.55063423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063423G>T , CM000663.2:g.55063423G>T	GRCh38
NC_000001.10:g.55529096G>T , CM000663.1:g.55529096G>T	GRCh37
NC_000001.9:g.55301684G>T	NCBI36
NG_009061.1:g.28877G>T , LRG_275:g.28877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*258G>T	ENSP00000501161.2:n.*258G>T
ENST00000710286.1:c.2275G>T	ENSP00000518176.1:p.Gly759Trp
ENST00000673903.1:c.1543G>T	ENSP00000501257.1:p.Gly515Trp
ENST00000673913.1:c.768G>T	ENSP00000501161.1:n.768G>T
ENST00000302118.5:c.1918G>T MANE Select	ENSP00000303208.5:p.Gly640Trp
ENST00000490692.1:n.2464G>T
NM_174936.3:c.1918G>T , LRG_275t1:c.1918G>T	NP_777596.2:p.Gly640Trp
NR_110451.1:n.1525G>T
XM_011541193.1:c.1039G>T	XP_011539495.1:p.Gly347Trp
NM_174936.4:c.1918G>T MANE Select	NP_777596.2:p.Gly640Trp
NR_110451.2:n.1525G>T