Canonical Allele Identifier: CA040488

Gene: PCSK9

Linked Data

• dbSNP Id: rs778218461
• ExAC: 1:55529226 A / G
• gnomAD v2: 1-55529226-A-G
• gnomAD v3: 1-55063553-A-G
• gnomAD v4: 1-55063553-A-G
• MyVariant Identifiers: chr1:g.55529226A>G (hg19) ; chr1:g.55063553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063553A>G , CM000663.2:g.55063553A>G	GRCh38
NC_000001.10:g.55529226A>G , CM000663.1:g.55529226A>G	GRCh37
NC_000001.9:g.55301814A>G	NCBI36
NG_009061.1:g.29007A>G , LRG_275:g.29007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*388A>G	ENSP00000501161.2:n.*388A>G
ENST00000710286.1:c.2405A>G	ENSP00000518176.1:p.His802Arg
ENST00000673903.1:c.1673A>G	ENSP00000501257.1:p.His558Arg
ENST00000302118.5:c.2048A>G MANE Select	ENSP00000303208.5:p.His683Arg
ENST00000490692.1:n.2594A>G
NM_174936.3:c.2048A>G , LRG_275t1:c.2048A>G	NP_777596.2:p.His683Arg
NR_110451.1:n.1655A>G
XM_011541193.1:c.1169A>G	XP_011539495.1:p.His390Arg
NM_174936.4:c.2048A>G MANE Select	NP_777596.2:p.His683Arg
NR_110451.2:n.1655A>G