Canonical Allele Identifier: CA2645840887
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063845-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063845A>G , CM000663.2:g.55063845A>G GRCh38
NC_000001.10:g.55529518A>G , CM000663.1:g.55529518A>G GRCh37
NC_000001.9:g.55302106A>G NCBI36
NG_009061.1:g.29299A>G , LRG_275:g.29299A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*680A>G ENSP00000501161.2:n.*680A>G
ENST00000710286.1:c.*261A>G ENSP00000518176.1:n.*261A>G
ENST00000673903.1:c.*261A>G ENSP00000501257.1:n.*261A>G
ENST00000302118.5:c.*261A>G MANE Select ENSP00000303208.5:n.*261A>G
ENST00000490692.1:n.2886A>G
NM_174936.3:c.*261A>G , LRG_275t1:c.*261A>G NP_777596.2:n.*261A>G
NR_110451.1:n.1947A>G
XM_011541193.1:c.*261A>G XP_011539495.1:n.*261A>G
NM_174936.4:c.*261A>G MANE Select NP_777596.2:n.*261A>G
NR_110451.2:n.1947A>G
Search 100 bp 5'
Search 100 bp 3'