Canonical Allele Identifier: CA041789

Gene: PCSK9

Linked Data

• dbSNP Id: rs746438392
• ExAC: 1:55509722 T / C
• gnomAD v2: 1-55509722-T-C
• gnomAD v3: 1-55044049-T-C
• gnomAD v4: 1-55044049-T-C
• MyVariant Identifiers: chr1:g.55509722T>C (hg19) ; chr1:g.55044049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044049T>C , CM000663.2:g.55044049T>C	GRCh38
NC_000001.10:g.55509722T>C , CM000663.1:g.55509722T>C	GRCh37
NC_000001.9:g.55282310T>C	NCBI36
NG_009061.1:g.9503T>C , LRG_275:g.9503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.399+15T>C	ENSP00000501161.2:n.399+15T>C
ENST00000710286.1:c.756+15T>C	ENSP00000518176.1:n.756+15T>C
ENST00000673662.1:n.69+15T>C
ENST00000673726.1:c.399+15T>C	ENSP00000501004.1:n.399+15T>C
ENST00000673903.1:c.24+15T>C	ENSP00000501257.1:n.24+15T>C
ENST00000302118.5:c.399+15T>C MANE Select	ENSP00000303208.5:n.399+15T>C
NM_174936.3:c.399+15T>C , LRG_275t1:c.399+15T>C	NP_777596.2:n.399+15T>C
NR_110451.1:n.182+3646T>C
NM_174936.4:c.399+15T>C MANE Select	NP_777596.2:n.399+15T>C
NR_110451.2:n.182+3646T>C