Canonical Allele Identifier: CA340480647

Gene: PCSK9

Linked Data

• dbSNP Id: rs1557509722
• gnomAD v2: 1-55529091-T-C
• gnomAD v3: 1-55063418-T-C
• gnomAD v4: 1-55063418-T-C
• COSMIC: COSM6393177
• MyVariant Identifiers: chr1:g.55529091T>C (hg19) ; chr1:g.55063418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063418T>C , CM000663.2:g.55063418T>C	GRCh38
NC_000001.10:g.55529091T>C , CM000663.1:g.55529091T>C	GRCh37
NC_000001.9:g.55301679T>C	NCBI36
NG_009061.1:g.28872T>C , LRG_275:g.28872T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*253T>C	ENSP00000501161.2:n.*253T>C
ENST00000710286.1:c.2270T>C	ENSP00000518176.1:p.Leu757Pro
ENST00000673903.1:c.1538T>C	ENSP00000501257.1:p.Leu513Pro
ENST00000673913.1:c.763T>C	ENSP00000501161.1:n.763T>C
ENST00000302118.5:c.1913T>C MANE Select	ENSP00000303208.5:p.Leu638Pro
ENST00000490692.1:n.2459T>C
NM_174936.3:c.1913T>C , LRG_275t1:c.1913T>C	NP_777596.2:p.Leu638Pro
NR_110451.1:n.1520T>C
XM_011541193.1:c.1034T>C	XP_011539495.1:p.Leu345Pro
NM_174936.4:c.1913T>C MANE Select	NP_777596.2:p.Leu638Pro
NR_110451.2:n.1520T>C