Canonical Allele Identifier: CA040881

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 921574
• ClinVar RCV Id: RCV001181028 ; RCV004006714
• dbSNP Id: rs376944580
• ExAC: 1:55509527 G / T
• gnomAD v2: 1-55509527-G-T
• gnomAD v3: 1-55043854-G-T
• gnomAD v4: 1-55043854-G-T
• MyVariant Identifiers: chr1:g.55509527G>T (hg19) ; chr1:g.55043854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043854G>T , CM000663.2:g.55043854G>T	GRCh38
NC_000001.10:g.55509527G>T , CM000663.1:g.55509527G>T	GRCh37
NC_000001.9:g.55282115G>T	NCBI36
NG_009061.1:g.9308G>T , LRG_275:g.9308G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.219G>T	ENSP00000501161.2:p.Arg73Ser
ENST00000710286.1:c.576G>T	ENSP00000518176.1:p.Arg192Ser
ENST00000673726.1:c.219G>T	ENSP00000501004.1:p.Arg73Ser
ENST00000673903.1:c.-157G>T	ENSP00000501257.1:n.-157G>T
ENST00000302118.5:c.219G>T MANE Select	ENSP00000303208.5:p.Arg73Ser
NM_174936.3:c.219G>T , LRG_275t1:c.219G>T	NP_777596.2:p.Arg73Ser
NR_110451.1:n.182+3451G>T
NM_174936.4:c.219G>T MANE Select	NP_777596.2:p.Arg73Ser
NR_110451.2:n.182+3451G>T