Canonical Allele Identifier: CA2645840818
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063790-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063790G>T , CM000663.2:g.55063790G>T GRCh38
NC_000001.10:g.55529463G>T , CM000663.1:g.55529463G>T GRCh37
NC_000001.9:g.55302051G>T NCBI36
NG_009061.1:g.29244G>T , LRG_275:g.29244G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*625G>T ENSP00000501161.2:n.*625G>T
ENST00000710286.1:c.*206G>T ENSP00000518176.1:n.*206G>T
ENST00000673903.1:c.*206G>T ENSP00000501257.1:n.*206G>T
ENST00000302118.5:c.*206G>T MANE Select ENSP00000303208.5:n.*206G>T
ENST00000490692.1:n.2831G>T
NM_174936.3:c.*206G>T , LRG_275t1:c.*206G>T NP_777596.2:n.*206G>T
NR_110451.1:n.1892G>T
XM_011541193.1:c.*206G>T XP_011539495.1:n.*206G>T
NM_174936.4:c.*206G>T MANE Select NP_777596.2:n.*206G>T
NR_110451.2:n.1892G>T