Canonical Allele Identifier: CA408973174
Community Standard Title: NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50893174A>C , CM000682.2:g.50893174A>C GRCh38
NC_000020.10:g.49509711A>C , CM000682.1:g.49509711A>C GRCh37
NC_000020.9:g.48943118A>C NCBI36
NG_034200.1:g.42817T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.1540T>G MANE Select NP_001269460.1:p.Cys514Gly
ENST00000621696.5:c.1540T>G MANE Select ENSP00000483881.1:p.Cys514Gly
NM_001282531.1:c.1540T>G NP_001269460.1:p.Cys514Gly
NM_001282531.2:c.1540T>G NP_001269460.1:p.Cys514Gly
NM_001282532.1:c.1540T>G NP_001269461.1:p.Cys514Gly
NM_001282532.2:c.1540T>G NP_001269461.1:p.Cys514Gly
NM_001347511.1:c.1540T>G NP_001334440.1:p.Cys514Gly
NM_001347511.2:c.1540T>G NP_001334440.1:p.Cys514Gly
NM_015339.3:c.1540T>G NP_056154.1:p.Cys514Gly
NM_015339.4:c.1540T>G NP_056154.1:p.Cys514Gly
NM_015339.5:c.1540T>G NP_056154.1:p.Cys514Gly
NM_181442.2:c.1540T>G NP_852107.1:p.Cys514Gly
NM_181442.3:c.1540T>G NP_852107.1:p.Cys514Gly
NM_181442.4:c.1540T>G NP_852107.1:p.Cys514Gly
ENST00000349014.7:c.1540T>G ENSP00000342905.3:p.Cys514Gly
ENST00000349014.8:c.1540T>G ENSP00000342905.3:p.Cys514Gly
ENST00000371602.8:c.1540T>G ENSP00000360662.2:p.Cys514Gly
ENST00000371602.9:c.1540T>G ENSP00000360662.2:p.Cys514Gly
ENST00000396029.7:c.1540T>G ENSP00000379346.3:p.Cys514Gly
ENST00000396029.8:c.1540T>G ENSP00000379346.3:p.Cys514Gly
ENST00000396032.7:c.1540T>G ENSP00000379349.2:p.Cys514Gly
ENST00000396032.8:c.1540T>G ENSP00000379349.2:p.Cys514Gly
ENST00000621696.4:c.1540T>G ENSP00000483881.1:p.Cys514Gly
ENST00000644386.1:c.202-3217T>G ENSP00000493755.1:n.202-3217T>G
ENST00000645081.1:c.856T>G ENSP00000495540.1:p.Cys286Gly
ENST00000673732.1:c.1756T>G ENSP00000501294.1:p.Cys586Gly
XM_011528747.1:c.1540T>G XP_011527049.1:p.Cys514Gly
XM_011528747.2:c.1540T>G XP_011527049.1:p.Cys514Gly
XM_011528748.1:c.1567T>G XP_011527050.1:p.Cys523Gly
XM_011528748.2:c.1567T>G XP_011527050.1:p.Cys523Gly
XM_017027758.1:c.1540T>G XP_016883247.1:p.Cys514Gly
XM_017027759.1:c.1540T>G XP_016883248.1:p.Cys514Gly