Canonical Allele Identifier: CA10602716

Gene: ADNP

Linked Data

• ClinVar Variation Id: 279598
• ClinVar RCV Id: RCV000258940 ; RCV000414762 ; RCV000623455 ; RCV000497305
• dbSNP Id: rs886041116
• MyVariant Identifiers: chr20:g.49509063G>A (hg19) ; chr20:g.50892526G>A (hg38)
• PubMed: PMID:11013255 ; PMID:22495309 ; PMID:23160955 ; PMID:24531329 ; PMID:25057125 ; PMID:25169753 ; PMID:26637798 ; PMID:26845707 ; PMID:27031564 ; PMID:28191889 ; PMID:28221363

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50892526G>A , CM000682.2:g.50892526G>A	GRCh38
NC_000020.10:g.49509063G>A , CM000682.1:g.49509063G>A	GRCh37
NC_000020.9:g.48942470G>A	NCBI36
NG_034200.1:g.43465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349014.8:c.2188C>T	ENSP00000342905.3:p.Arg730Ter
ENST00000371602.9:c.2188C>T	ENSP00000360662.2:p.Arg730Ter
ENST00000396029.8:c.2188C>T	ENSP00000379346.3:p.Arg730Ter
ENST00000396032.8:c.2188C>T	ENSP00000379349.2:p.Arg730Ter
ENST00000621696.5:c.2188C>T MANE Select	ENSP00000483881.1:p.Arg730Ter
ENST00000644386.1:c.202-2569C>T	ENSP00000493755.1:n.202-2569C>T
ENST00000645081.1:c.1504C>T	ENSP00000495540.1:p.Arg502Ter
ENST00000673732.1:c.2404C>T	ENSP00000501294.1:p.Arg802Ter
ENST00000349014.7:c.2188C>T	ENSP00000342905.3:p.Arg730Ter
ENST00000371602.8:c.2188C>T	ENSP00000360662.2:p.Arg730Ter
ENST00000396029.7:c.2188C>T	ENSP00000379346.3:p.Arg730Ter
ENST00000396032.7:c.2188C>T	ENSP00000379349.2:p.Arg730Ter
ENST00000621696.4:c.2188C>T	ENSP00000483881.1:p.Arg730Ter
NM_001282531.1:c.2188C>T	NP_001269460.1:p.Arg730Ter
NM_001282532.1:c.2188C>T	NP_001269461.1:p.Arg730Ter
NM_015339.3:c.2188C>T	NP_056154.1:p.Arg730Ter
NM_181442.2:c.2188C>T	NP_852107.1:p.Arg730Ter
XM_011528747.1:c.2188C>T	XP_011527049.1:p.Arg730Ter
XM_011528748.1:c.2215C>T	XP_011527050.1:p.Arg739Ter
NM_001282531.2:c.2188C>T	NP_001269460.1:p.Arg730Ter
NM_001347511.1:c.2188C>T	NP_001334440.1:p.Arg730Ter
NM_015339.4:c.2188C>T	NP_056154.1:p.Arg730Ter
NM_181442.3:c.2188C>T	NP_852107.1:p.Arg730Ter
XM_011528747.2:c.2188C>T	XP_011527049.1:p.Arg730Ter
XM_011528748.2:c.2215C>T	XP_011527050.1:p.Arg739Ter
XM_017027758.1:c.2188C>T	XP_016883247.1:p.Arg730Ter
XM_017027759.1:c.2188C>T	XP_016883248.1:p.Arg730Ter
NM_001282531.3:c.2188C>T MANE Select	NP_001269460.1:p.Arg730Ter
NM_001347511.2:c.2188C>T	NP_001334440.1:p.Arg730Ter
NM_015339.5:c.2188C>T	NP_056154.1:p.Arg730Ter
NM_181442.4:c.2188C>T	NP_852107.1:p.Arg730Ter
NM_001282532.2:c.2188C>T	NP_001269461.1:p.Arg730Ter