Canonical Allele Identifier: CA16608474

Gene: ADNP

Linked Data

• ClinVar Variation Id: 391218
• ClinVar RCV Id: RCV000428470 ; RCV000622544 ; RCV001618684 ; RCV003985350
• dbSNP Id: rs779340209
• MyVariant Identifiers: chr20:g.49509038G>C (hg19) ; chr20:g.50892501G>C (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.50892501G>C , CM000682.2:g.50892501G>C	GRCh38
NC_000020.10:g.49509038G>C , CM000682.1:g.49509038G>C	GRCh37
NC_000020.9:g.48942445G>C	NCBI36
NG_034200.1:g.43490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349014.8:c.2213C>G	ENSP00000342905.3:p.Ser738Ter
ENST00000371602.9:c.2213C>G	ENSP00000360662.2:p.Ser738Ter
ENST00000396029.8:c.2213C>G	ENSP00000379346.3:p.Ser738Ter
ENST00000396032.8:c.2213C>G	ENSP00000379349.2:p.Ser738Ter
ENST00000621696.5:c.2213C>G MANE Select	ENSP00000483881.1:p.Ser738Ter
ENST00000644386.1:c.202-2544C>G	ENSP00000493755.1:n.202-2544C>G
ENST00000645081.1:c.1529C>G	ENSP00000495540.1:p.Ser510Ter
ENST00000673732.1:c.2429C>G	ENSP00000501294.1:p.Ser810Ter
ENST00000349014.7:c.2213C>G	ENSP00000342905.3:p.Ser738Ter
ENST00000371602.8:c.2213C>G	ENSP00000360662.2:p.Ser738Ter
ENST00000396029.7:c.2213C>G	ENSP00000379346.3:p.Ser738Ter
ENST00000396032.7:c.2213C>G	ENSP00000379349.2:p.Ser738Ter
ENST00000621696.4:c.2213C>G	ENSP00000483881.1:p.Ser738Ter
NM_001282531.1:c.2213C>G	NP_001269460.1:p.Ser738Ter
NM_001282532.1:c.2213C>G	NP_001269461.1:p.Ser738Ter
NM_015339.3:c.2213C>G	NP_056154.1:p.Ser738Ter
NM_181442.2:c.2213C>G	NP_852107.1:p.Ser738Ter
XM_011528747.1:c.2213C>G	XP_011527049.1:p.Ser738Ter
XM_011528748.1:c.2240C>G	XP_011527050.1:p.Ser747Ter
NM_001282531.2:c.2213C>G	NP_001269460.1:p.Ser738Ter
NM_001347511.1:c.2213C>G	NP_001334440.1:p.Ser738Ter
NM_015339.4:c.2213C>G	NP_056154.1:p.Ser738Ter
NM_181442.3:c.2213C>G	NP_852107.1:p.Ser738Ter
XM_011528747.2:c.2213C>G	XP_011527049.1:p.Ser738Ter
XM_011528748.2:c.2240C>G	XP_011527050.1:p.Ser747Ter
XM_017027758.1:c.2213C>G	XP_016883247.1:p.Ser738Ter
XM_017027759.1:c.2213C>G	XP_016883248.1:p.Ser738Ter
NM_001282531.3:c.2213C>G MANE Select	NP_001269460.1:p.Ser738Ter
NM_001347511.2:c.2213C>G	NP_001334440.1:p.Ser738Ter
NM_015339.5:c.2213C>G	NP_056154.1:p.Ser738Ter
NM_181442.4:c.2213C>G	NP_852107.1:p.Ser738Ter
NM_001282532.2:c.2213C>G	NP_001269461.1:p.Ser738Ter