Canonical Allele Identifier: CA340482665
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039880-C-A
MyVariant Identifiers: chr1:g.55505553C>A (hg19) chr1:g.55039880C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039880C>A , CM000663.2:g.55039880C>A GRCh38
NC_000001.10:g.55505553C>A , CM000663.1:g.55505553C>A GRCh37
NC_000001.9:g.55278141C>A NCBI36
NG_009061.1:g.5334C>A , LRG_275:g.5334C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.43C>A ENSP00000501161.2:p.Leu15Met
ENST00000710286.1:c.400C>A ENSP00000518176.1:p.Leu134Met
ENST00000673726.1:c.43C>A ENSP00000501004.1:p.Leu15Met
ENST00000302118.5:c.43C>A MANE Select ENSP00000303208.5:p.Leu15Met
NM_174936.3:c.43C>A , LRG_275t1:c.43C>A NP_777596.2:p.Leu15Met
NM_174936.4:c.43C>A MANE Select NP_777596.2:p.Leu15Met
Search 100 bp 5'
Search 100 bp 3'