Canonical Allele Identifier: CA2645841615
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55059732-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059732G>T , CM000663.2:g.55059732G>T GRCh38
NC_000001.10:g.55525405G>T , CM000663.1:g.55525405G>T GRCh37
NC_000001.9:g.55297993G>T NCBI36
NG_009061.1:g.25186G>T , LRG_275:g.25186G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+69G>T ENSP00000501161.2:n.1681+69G>T
ENST00000710286.1:c.2038+69G>T ENSP00000518176.1:n.2038+69G>T
ENST00000673903.1:c.1306+69G>T ENSP00000501257.1:n.1306+69G>T
ENST00000673913.1:c.421+69G>T ENSP00000501161.1:n.421+69G>T
ENST00000302118.5:c.1681+69G>T MANE Select ENSP00000303208.5:n.1681+69G>T
ENST00000490692.1:n.2227+1085G>T
NM_174936.3:c.1681+69G>T , LRG_275t1:c.1681+69G>T NP_777596.2:n.1681+69G>T
NR_110451.1:n.1288+69G>T
XM_011541193.1:c.802+69G>T XP_011539495.1:n.802+69G>T
NM_174936.4:c.1681+69G>T MANE Select NP_777596.2:n.1681+69G>T
NR_110451.2:n.1288+69G>T