Canonical Allele Identifier: CA340480307

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527126A>T (hg19) ; chr1:g.55061453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061453A>T , CM000663.2:g.55061453A>T	GRCh38
NC_000001.10:g.55527126A>T , CM000663.1:g.55527126A>T	GRCh37
NC_000001.9:g.55299714A>T	NCBI36
NG_009061.1:g.26907A>T , LRG_275:g.26907A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*100A>T	ENSP00000501161.2:n.*100A>T
ENST00000710286.1:c.2117A>T	ENSP00000518176.1:p.Gln706Leu
ENST00000673903.1:c.1385A>T	ENSP00000501257.1:p.Gln462Leu
ENST00000673913.1:c.610A>T	ENSP00000501161.1:n.610A>T
ENST00000302118.5:c.1760A>T MANE Select	ENSP00000303208.5:p.Gln587Leu
ENST00000490692.1:n.2306A>T
NM_174936.3:c.1760A>T , LRG_275t1:c.1760A>T	NP_777596.2:p.Gln587Leu
NR_110451.1:n.1367A>T
XM_011541193.1:c.881A>T	XP_011539495.1:p.Gln294Leu
NM_174936.4:c.1760A>T MANE Select	NP_777596.2:p.Gln587Leu
NR_110451.2:n.1367A>T