Canonical Allele Identifier: CA515263533

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160228C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721800C>G , CM000684.2:g.50721800C>G	GRCh38
NC_000022.10:g.51160228C>G , CM000684.1:g.51160228C>G	GRCh37
NC_000022.9:g.49507094C>G	NCBI36
NG_008607.2:g.52446C>G
NG_070230.1:g.57584C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3568C>G	ENSP00000489147.2:p.Leu1190Val
ENST00000414786.7:n.4152C>G
ENST00000445220.7:c.2620C>G	ENSP00000489407.2:p.Leu874Val
ENST00000664402.2:c.2110C>G	ENSP00000499475.1:p.Leu704Val
ENST00000673971.2:c.*2566C>G	ENSP00000501192.1:n.*2566C>G
ENST00000445220.6:c.2620C>G	ENSP00000489407.2:p.Leu874Val
ENST00000262795.6:c.3568C>G	ENSP00000489147.2:p.Leu1190Val
ENST00000664402.1:c.2110C>G	ENSP00000499475.1:p.Leu704Val
ENST00000673971.1:c.*2566C>G	ENSP00000501192.1:n.*2566C>G
ENST00000262795.5:c.3964C>G	ENSP00000489147.1:p.Leu1322Val
ENST00000414786.6:n.4152C>G
ENST00000445220.5:c.3946C>G	ENSP00000489407.1:p.Leu1316Val