Canonical Allele Identifier: CA417960424

Gene: PCSK9

Linked Data

• dbSNP Id: rs1311457022
• gnomAD v2: 1-55525263-C-T
• MyVariant Identifiers: chr1:g.55525263C>T (hg19) ; chr1:g.55059590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059590C>T , CM000663.2:g.55059590C>T	GRCh38
NC_000001.10:g.55525263C>T , CM000663.1:g.55525263C>T	GRCh37
NC_000001.9:g.55297851C>T	NCBI36
NG_009061.1:g.25044C>T , LRG_275:g.25044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1608C>T	ENSP00000501161.2:p.Val536=
ENST00000710286.1:c.1965C>T	ENSP00000518176.1:p.Val655=
ENST00000673903.1:c.1233C>T	ENSP00000501257.1:p.Val411=
ENST00000673913.1:c.348C>T	ENSP00000501161.1:p.Val116=
ENST00000302118.5:c.1608C>T MANE Select	ENSP00000303208.5:p.Val536=
ENST00000490692.1:n.2227+943C>T
NM_174936.3:c.1608C>T , LRG_275t1:c.1608C>T	NP_777596.2:p.Val536=
NR_110451.1:n.1215C>T
XM_011541193.1:c.729C>T	XP_011539495.1:p.Val243=
NM_174936.4:c.1608C>T MANE Select	NP_777596.2:p.Val536=
NR_110451.2:n.1215C>T