Canonical Allele Identifier: CA408977551

Gene: ADNP

Linked Data

• ClinVar Variation Id: 2664894
• ClinVar RCV Id: RCV003447868
• gnomAD v4: 20-50894200-A-G
• MyVariant Identifiers: chr20:g.49510737A>G (hg19) ; chr20:g.50894200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50894200A>G , CM000682.2:g.50894200A>G	GRCh38
NC_000020.10:g.49510737A>G , CM000682.1:g.49510737A>G	GRCh37
NC_000020.9:g.48944144A>G	NCBI36
NG_034200.1:g.41791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349014.8:c.514T>C	ENSP00000342905.3:p.Tyr172His
ENST00000371602.9:c.514T>C	ENSP00000360662.2:p.Tyr172His
ENST00000396029.8:c.514T>C	ENSP00000379346.3:p.Tyr172His
ENST00000396032.8:c.514T>C	ENSP00000379349.2:p.Tyr172His
ENST00000621696.5:c.514T>C MANE Select	ENSP00000483881.1:p.Tyr172His
ENST00000642364.1:n.491T>C
ENST00000644386.1:c.202-4243T>C	ENSP00000493755.1:n.202-4243T>C
ENST00000645081.1:c.-171T>C	ENSP00000495540.1:n.-171T>C
ENST00000673732.1:c.730T>C	ENSP00000501294.1:p.Tyr244His
ENST00000349014.7:c.514T>C	ENSP00000342905.3:p.Tyr172His
ENST00000371602.8:c.514T>C	ENSP00000360662.2:p.Tyr172His
ENST00000396029.7:c.514T>C	ENSP00000379346.3:p.Tyr172His
ENST00000396032.7:c.514T>C	ENSP00000379349.2:p.Tyr172His
ENST00000534467.1:c.514T>C	ENSP00000436181.1:p.Tyr172His
ENST00000621696.4:c.514T>C	ENSP00000483881.1:p.Tyr172His
NM_001282531.1:c.514T>C	NP_001269460.1:p.Tyr172His
NM_001282532.1:c.514T>C	NP_001269461.1:p.Tyr172His
NM_015339.3:c.514T>C	NP_056154.1:p.Tyr172His
NM_181442.2:c.514T>C	NP_852107.1:p.Tyr172His
XM_011528747.1:c.514T>C	XP_011527049.1:p.Tyr172His
XM_011528748.1:c.541T>C	XP_011527050.1:p.Tyr181His
NM_001282531.2:c.514T>C	NP_001269460.1:p.Tyr172His
NM_001347511.1:c.514T>C	NP_001334440.1:p.Tyr172His
NM_015339.4:c.514T>C	NP_056154.1:p.Tyr172His
NM_181442.3:c.514T>C	NP_852107.1:p.Tyr172His
XM_011528747.2:c.514T>C	XP_011527049.1:p.Tyr172His
XM_011528748.2:c.541T>C	XP_011527050.1:p.Tyr181His
XM_017027758.1:c.514T>C	XP_016883247.1:p.Tyr172His
XM_017027759.1:c.514T>C	XP_016883248.1:p.Tyr172His
NM_001282531.3:c.514T>C MANE Select	NP_001269460.1:p.Tyr172His
NM_001347511.2:c.514T>C	NP_001334440.1:p.Tyr172His
NM_015339.5:c.514T>C	NP_056154.1:p.Tyr172His
NM_181442.4:c.514T>C	NP_852107.1:p.Tyr172His
NM_001282532.2:c.514T>C	NP_001269461.1:p.Tyr172His