Canonical Allele Identifier: CA2645840863
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063823-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063823T>A , CM000663.2:g.55063823T>A GRCh38
NC_000001.10:g.55529496T>A , CM000663.1:g.55529496T>A GRCh37
NC_000001.9:g.55302084T>A NCBI36
NG_009061.1:g.29277T>A , LRG_275:g.29277T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*658T>A ENSP00000501161.2:n.*658T>A
ENST00000710286.1:c.*239T>A ENSP00000518176.1:n.*239T>A
ENST00000673903.1:c.*239T>A ENSP00000501257.1:n.*239T>A
ENST00000302118.5:c.*239T>A MANE Select ENSP00000303208.5:n.*239T>A
ENST00000490692.1:n.2864T>A
NM_174936.3:c.*239T>A , LRG_275t1:c.*239T>A NP_777596.2:n.*239T>A
NR_110451.1:n.1925T>A
XM_011541193.1:c.*239T>A XP_011539495.1:n.*239T>A
NM_174936.4:c.*239T>A MANE Select NP_777596.2:n.*239T>A
NR_110451.2:n.1925T>A
Search 100 bp 5'
Search 100 bp 3'