Canonical Allele Identifier: CA2645840491
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063635-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063635G>T , CM000663.2:g.55063635G>T GRCh38
NC_000001.10:g.55529308G>T , CM000663.1:g.55529308G>T GRCh37
NC_000001.9:g.55301896G>T NCBI36
NG_009061.1:g.29089G>T , LRG_275:g.29089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*470G>T ENSP00000501161.2:n.*470G>T
ENST00000710286.1:c.*51G>T ENSP00000518176.1:n.*51G>T
ENST00000673903.1:c.*51G>T ENSP00000501257.1:n.*51G>T
ENST00000302118.5:c.*51G>T MANE Select ENSP00000303208.5:n.*51G>T
ENST00000490692.1:n.2676G>T
NM_174936.3:c.*51G>T , LRG_275t1:c.*51G>T NP_777596.2:n.*51G>T
NR_110451.1:n.1737G>T
XM_011541193.1:c.*51G>T XP_011539495.1:n.*51G>T
NM_174936.4:c.*51G>T MANE Select NP_777596.2:n.*51G>T
NR_110451.2:n.1737G>T