Canonical Allele Identifier: CA2645840676
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063725-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063725G>A , CM000663.2:g.55063725G>A GRCh38
NC_000001.10:g.55529398G>A , CM000663.1:g.55529398G>A GRCh37
NC_000001.9:g.55301986G>A NCBI36
NG_009061.1:g.29179G>A , LRG_275:g.29179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*560G>A ENSP00000501161.2:n.*560G>A
ENST00000710286.1:c.*141G>A ENSP00000518176.1:n.*141G>A
ENST00000673903.1:c.*141G>A ENSP00000501257.1:n.*141G>A
ENST00000302118.5:c.*141G>A MANE Select ENSP00000303208.5:n.*141G>A
ENST00000490692.1:n.2766G>A
NM_174936.3:c.*141G>A , LRG_275t1:c.*141G>A NP_777596.2:n.*141G>A
NR_110451.1:n.1827G>A
XM_011541193.1:c.*141G>A XP_011539495.1:n.*141G>A
NM_174936.4:c.*141G>A MANE Select NP_777596.2:n.*141G>A
NR_110451.2:n.1827G>A
Search 100 bp 5'
Search 100 bp 3'