Canonical Allele Identifier: CA737004092

Gene: PCSK9

Linked Data

• dbSNP Id: rs1370988872
• gnomAD v4: 1-55059720-A-G
• MyVariant Identifiers: chr1:g.55525393A>G (hg19) ; chr1:g.55059720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059720A>G , CM000663.2:g.55059720A>G	GRCh38
NC_000001.10:g.55525393A>G , CM000663.1:g.55525393A>G	GRCh37
NC_000001.9:g.55297981A>G	NCBI36
NG_009061.1:g.25174A>G , LRG_275:g.25174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+57A>G	ENSP00000501161.2:n.1681+57A>G
ENST00000710286.1:c.2038+57A>G	ENSP00000518176.1:n.2038+57A>G
ENST00000673903.1:c.1306+57A>G	ENSP00000501257.1:n.1306+57A>G
ENST00000673913.1:c.421+57A>G	ENSP00000501161.1:n.421+57A>G
ENST00000302118.5:c.1681+57A>G MANE Select	ENSP00000303208.5:n.1681+57A>G
ENST00000490692.1:n.2227+1073A>G
NM_174936.3:c.1681+57A>G , LRG_275t1:c.1681+57A>G	NP_777596.2:n.1681+57A>G
NR_110451.1:n.1288+57A>G
XM_011541193.1:c.802+57A>G	XP_011539495.1:n.802+57A>G
NM_174936.4:c.1681+57A>G MANE Select	NP_777596.2:n.1681+57A>G
NR_110451.2:n.1288+57A>G