Canonical Allele Identifier: CA340480015

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1171542
• ClinVar RCV Id: RCV001524739
• dbSNP Id: rs2100330877
• MyVariant Identifiers: chr1:g.55525284G>T (hg19) ; chr1:g.55059611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059611G>T , CM000663.2:g.55059611G>T	GRCh38
NC_000001.10:g.55525284G>T , CM000663.1:g.55525284G>T	GRCh37
NC_000001.9:g.55297872G>T	NCBI36
NG_009061.1:g.25065G>T , LRG_275:g.25065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1629G>T	ENSP00000501161.2:p.Glu543Asp
ENST00000710286.1:c.1986G>T	ENSP00000518176.1:p.Glu662Asp
ENST00000673903.1:c.1254G>T	ENSP00000501257.1:p.Glu418Asp
ENST00000673913.1:c.369G>T	ENSP00000501161.1:p.Glu123Asp
ENST00000302118.5:c.1629G>T MANE Select	ENSP00000303208.5:p.Glu543Asp
ENST00000490692.1:n.2227+964G>T
NM_174936.3:c.1629G>T , LRG_275t1:c.1629G>T	NP_777596.2:p.Glu543Asp
NR_110451.1:n.1236G>T
XM_011541193.1:c.750G>T	XP_011539495.1:p.Glu250Asp
NM_174936.4:c.1629G>T MANE Select	NP_777596.2:p.Glu543Asp
NR_110451.2:n.1236G>T