Canonical Allele Identifier: CA515261001

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159470T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721042T>G , CM000684.2:g.50721042T>G	GRCh38
NC_000022.10:g.51159470T>G , CM000684.1:g.51159470T>G	GRCh37
NC_000022.9:g.49506336T>G	NCBI36
NG_008607.2:g.51688T>G
NG_070230.1:g.56826T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2810T>G	ENSP00000489147.2:p.Leu937Arg
ENST00000414786.7:n.3394T>G
ENST00000445220.7:c.1862T>G	ENSP00000489407.2:p.Leu621Arg
ENST00000664402.2:c.1352T>G	ENSP00000499475.1:p.Leu451Arg
ENST00000673971.2:c.*1808T>G	ENSP00000501192.1:n.*1808T>G
ENST00000445220.6:c.1862T>G	ENSP00000489407.2:p.Leu621Arg
ENST00000262795.6:c.2810T>G	ENSP00000489147.2:p.Leu937Arg
ENST00000664402.1:c.1352T>G	ENSP00000499475.1:p.Leu451Arg
ENST00000673971.1:c.*1808T>G	ENSP00000501192.1:n.*1808T>G
ENST00000262795.5:c.3206T>G	ENSP00000489147.1:p.Leu1069Arg
ENST00000414786.6:n.3394T>G
ENST00000445220.5:c.3188T>G	ENSP00000489407.1:p.Leu1063Arg