Canonical Allele Identifier: CA340479792

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1018970
• ClinVar RCV Id: RCV001318337 ; RCV002402887
• dbSNP Id: rs1182044412
• gnomAD v2: 1-55525205-G-T
• gnomAD v4: 1-55059532-G-T
• MyVariant Identifiers: chr1:g.55525205G>T (hg19) ; chr1:g.55059532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059532G>T , CM000663.2:g.55059532G>T	GRCh38
NC_000001.10:g.55525205G>T , CM000663.1:g.55525205G>T	GRCh37
NC_000001.9:g.55297793G>T	NCBI36
NG_009061.1:g.24986G>T , LRG_275:g.24986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1550G>T	ENSP00000501161.2:p.Gly517Val
ENST00000710286.1:c.1907G>T	ENSP00000518176.1:p.Gly636Val
ENST00000673903.1:c.1175G>T	ENSP00000501257.1:p.Gly392Val
ENST00000673913.1:c.290G>T	ENSP00000501161.1:p.Gly97Val
ENST00000302118.5:c.1550G>T MANE Select	ENSP00000303208.5:p.Gly517Val
ENST00000490692.1:n.2227+885G>T
NM_174936.3:c.1550G>T , LRG_275t1:c.1550G>T	NP_777596.2:p.Gly517Val
NR_110451.1:n.1157G>T
XM_011541193.1:c.671G>T	XP_011539495.1:p.Gly224Val
NM_174936.4:c.1550G>T MANE Select	NP_777596.2:p.Gly517Val
NR_110451.2:n.1157G>T