Canonical Allele Identifier: CA408977537

Gene: ADNP

Linked Data

• ClinVar Variation Id: 431117
• ClinVar RCV Id: RCV000496157 ; RCV001008669
• dbSNP Id: rs1135401791
• MyVariant Identifiers: chr20:g.49510734G>A (hg19) ; chr20:g.50894197G>A (hg38)
• PubMed: PMID:28708303

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50894197G>A , CM000682.2:g.50894197G>A	GRCh38
NC_000020.10:g.49510734G>A , CM000682.1:g.49510734G>A	GRCh37
NC_000020.9:g.48944141G>A	NCBI36
NG_034200.1:g.41794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349014.8:c.517C>T	ENSP00000342905.3:p.Arg173Ter
ENST00000371602.9:c.517C>T	ENSP00000360662.2:p.Arg173Ter
ENST00000396029.8:c.517C>T	ENSP00000379346.3:p.Arg173Ter
ENST00000396032.8:c.517C>T	ENSP00000379349.2:p.Arg173Ter
ENST00000621696.5:c.517C>T MANE Select	ENSP00000483881.1:p.Arg173Ter
ENST00000642364.1:n.494C>T
ENST00000644386.1:c.202-4240C>T	ENSP00000493755.1:n.202-4240C>T
ENST00000645081.1:c.-168C>T	ENSP00000495540.1:n.-168C>T
ENST00000673732.1:c.733C>T	ENSP00000501294.1:p.Arg245Ter
ENST00000349014.7:c.517C>T	ENSP00000342905.3:p.Arg173Ter
ENST00000371602.8:c.517C>T	ENSP00000360662.2:p.Arg173Ter
ENST00000396029.7:c.517C>T	ENSP00000379346.3:p.Arg173Ter
ENST00000396032.7:c.517C>T	ENSP00000379349.2:p.Arg173Ter
ENST00000534467.1:c.517C>T
ENST00000621696.4:c.517C>T	ENSP00000483881.1:p.Arg173Ter
NM_001282531.1:c.517C>T	NP_001269460.1:p.Arg173Ter
NM_001282532.1:c.517C>T	NP_001269461.1:p.Arg173Ter
NM_015339.3:c.517C>T	NP_056154.1:p.Arg173Ter
NM_181442.2:c.517C>T	NP_852107.1:p.Arg173Ter
XM_011528747.1:c.517C>T	XP_011527049.1:p.Arg173Ter
XM_011528748.1:c.544C>T	XP_011527050.1:p.Arg182Ter
NM_001282531.2:c.517C>T	NP_001269460.1:p.Arg173Ter
NM_001347511.1:c.517C>T	NP_001334440.1:p.Arg173Ter
NM_015339.4:c.517C>T	NP_056154.1:p.Arg173Ter
NM_181442.3:c.517C>T	NP_852107.1:p.Arg173Ter
XM_011528747.2:c.517C>T	XP_011527049.1:p.Arg173Ter
XM_011528748.2:c.544C>T	XP_011527050.1:p.Arg182Ter
XM_017027758.1:c.517C>T	XP_016883247.1:p.Arg173Ter
XM_017027759.1:c.517C>T	XP_016883248.1:p.Arg173Ter
NM_001282531.3:c.517C>T MANE Select	NP_001269460.1:p.Arg173Ter
NM_001347511.2:c.517C>T	NP_001334440.1:p.Arg173Ter
NM_015339.5:c.517C>T	NP_056154.1:p.Arg173Ter
NM_181442.4:c.517C>T	NP_852107.1:p.Arg173Ter
NM_001282532.2:c.517C>T	NP_001269461.1:p.Arg173Ter