Canonical Allele Identifier: CA340480938

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1486316
• ClinVar RCV Id: RCV002003504
• dbSNP Id: rs2100344811
• MyVariant Identifiers: chr1:g.55529244A>T (hg19) ; chr1:g.55063571A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063571A>T , CM000663.2:g.55063571A>T	GRCh38
NC_000001.10:g.55529244A>T , CM000663.1:g.55529244A>T	GRCh37
NC_000001.9:g.55301832A>T	NCBI36
NG_009061.1:g.29025A>T , LRG_275:g.29025A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*406A>T	ENSP00000501161.2:n.*406A>T
ENST00000710286.1:c.2423A>T	ENSP00000518176.1:p.Gln808Leu
ENST00000673903.1:c.1691A>T	ENSP00000501257.1:p.Gln564Leu
ENST00000302118.5:c.2066A>T MANE Select	ENSP00000303208.5:p.Gln689Leu
ENST00000490692.1:n.2612A>T
NM_174936.3:c.2066A>T , LRG_275t1:c.2066A>T	NP_777596.2:p.Gln689Leu
NR_110451.1:n.1673A>T
XM_011541193.1:c.1187A>T	XP_011539495.1:p.Gln396Leu
NM_174936.4:c.2066A>T MANE Select	NP_777596.2:p.Gln689Leu
NR_110451.2:n.1673A>T