Canonical Allele Identifier: CA340480349

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061472-G-T
• MyVariant Identifiers: chr1:g.55527145G>T (hg19) ; chr1:g.55061472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061472G>T , CM000663.2:g.55061472G>T	GRCh38
NC_000001.10:g.55527145G>T , CM000663.1:g.55527145G>T	GRCh37
NC_000001.9:g.55299733G>T	NCBI36
NG_009061.1:g.26926G>T , LRG_275:g.26926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*119G>T	ENSP00000501161.2:n.*119G>T
ENST00000710286.1:c.2136G>T	ENSP00000518176.1:p.Glu712Asp
ENST00000673903.1:c.1404G>T	ENSP00000501257.1:p.Glu468Asp
ENST00000673913.1:c.629G>T	ENSP00000501161.1:n.629G>T
ENST00000302118.5:c.1779G>T MANE Select	ENSP00000303208.5:p.Glu593Asp
ENST00000490692.1:n.2325G>T
NM_174936.3:c.1779G>T , LRG_275t1:c.1779G>T	NP_777596.2:p.Glu593Asp
NR_110451.1:n.1386G>T
XM_011541193.1:c.900G>T	XP_011539495.1:p.Glu300Asp
NM_174936.4:c.1779G>T MANE Select	NP_777596.2:p.Glu593Asp
NR_110451.2:n.1386G>T