Canonical Allele Identifier: CA515264534

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160562T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722134T>G , CM000684.2:g.50722134T>G	GRCh38
NC_000022.10:g.51160562T>G , CM000684.1:g.51160562T>G	GRCh37
NC_000022.9:g.49507428T>G	NCBI36
NG_008607.2:g.52780T>G
NG_070230.1:g.57918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3902T>G	ENSP00000489147.2:p.Leu1301Arg
ENST00000414786.7:n.4486T>G
ENST00000445220.7:c.2954T>G	ENSP00000489407.2:p.Leu985Arg
ENST00000664402.2:c.2444T>G	ENSP00000499475.1:p.Leu815Arg
ENST00000673971.2:c.*2900T>G	ENSP00000501192.1:n.*2900T>G
ENST00000445220.6:c.2954T>G	ENSP00000489407.2:p.Leu985Arg
ENST00000262795.6:c.3902T>G	ENSP00000489147.2:p.Leu1301Arg
ENST00000664402.1:c.2444T>G	ENSP00000499475.1:p.Leu815Arg
ENST00000673971.1:c.*2900T>G	ENSP00000501192.1:n.*2900T>G
ENST00000262795.5:c.4298T>G	ENSP00000489147.1:p.Leu1433Arg
ENST00000414786.6:n.4486T>G
ENST00000445220.5:c.4280T>G	ENSP00000489407.1:p.Leu1427Arg