Canonical Allele Identifier: CA340480855

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 922344
• ClinVar RCV Id: RCV001182376
• dbSNP Id: rs1557509864
• gnomAD v4: 1-55063529-T-C
• MyVariant Identifiers: chr1:g.55529202T>C (hg19) ; chr1:g.55063529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063529T>C , CM000663.2:g.55063529T>C	GRCh38
NC_000001.10:g.55529202T>C , CM000663.1:g.55529202T>C	GRCh37
NC_000001.9:g.55301790T>C	NCBI36
NG_009061.1:g.28983T>C , LRG_275:g.28983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*364T>C	ENSP00000501161.2:n.*364T>C
ENST00000710286.1:c.2381T>C	ENSP00000518176.1:p.Val794Ala
ENST00000673903.1:c.1649T>C	ENSP00000501257.1:p.Val550Ala
ENST00000302118.5:c.2024T>C MANE Select	ENSP00000303208.5:p.Val675Ala
ENST00000490692.1:n.2570T>C
NM_174936.3:c.2024T>C , LRG_275t1:c.2024T>C	NP_777596.2:p.Val675Ala
NR_110451.1:n.1631T>C
XM_011541193.1:c.1145T>C	XP_011539495.1:p.Val382Ala
NM_174936.4:c.2024T>C MANE Select	NP_777596.2:p.Val675Ala
NR_110451.2:n.1631T>C