Canonical Allele Identifier: CA340480516

Gene: PCSK9

Linked Data

• dbSNP Id: rs28362277
• gnomAD v2: 1-55527222-A-T
• gnomAD v4: 1-55061549-A-T
• MyVariant Identifiers: chr1:g.55527222A>T (hg19) ; chr1:g.55061549A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061549A>T , CM000663.2:g.55061549A>T	GRCh38
NC_000001.10:g.55527222A>T , CM000663.1:g.55527222A>T	GRCh37
NC_000001.9:g.55299810A>T	NCBI36
NG_009061.1:g.27003A>T , LRG_275:g.27003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*196A>T	ENSP00000501161.2:n.*196A>T
ENST00000710286.1:c.2213A>T	ENSP00000518176.1:p.Gln738Leu
ENST00000673903.1:c.1481A>T	ENSP00000501257.1:p.Gln494Leu
ENST00000673913.1:c.706A>T	ENSP00000501161.1:n.706A>T
ENST00000302118.5:c.1856A>T MANE Select	ENSP00000303208.5:p.Gln619Leu
ENST00000490692.1:n.2402A>T
NM_174936.3:c.1856A>T , LRG_275t1:c.1856A>T	NP_777596.2:p.Gln619Leu
NR_110451.1:n.1463A>T
XM_011541193.1:c.977A>T	XP_011539495.1:p.Gln326Leu
NM_174936.4:c.1856A>T MANE Select	NP_777596.2:p.Gln619Leu
NR_110451.2:n.1463A>T