Canonical Allele Identifier: CA515263943

Gene: SHANK3

Linked Data

• COSMIC: COSM3842976 ; COSM3842977
• MyVariant Identifiers: chr22:g.51160355C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721927C>G , CM000684.2:g.50721927C>G	GRCh38
NC_000022.10:g.51160355C>G , CM000684.1:g.51160355C>G	GRCh37
NC_000022.9:g.49507221C>G	NCBI36
NG_008607.2:g.52573C>G
NG_070230.1:g.57711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3695C>G	ENSP00000489147.2:p.Ser1232Cys
ENST00000414786.7:n.4279C>G
ENST00000445220.7:c.2747C>G	ENSP00000489407.2:p.Ser916Cys
ENST00000664402.2:c.2237C>G	ENSP00000499475.1:p.Ser746Cys
ENST00000673971.2:c.*2693C>G	ENSP00000501192.1:n.*2693C>G
ENST00000445220.6:c.2747C>G	ENSP00000489407.2:p.Ser916Cys
ENST00000262795.6:c.3695C>G	ENSP00000489147.2:p.Ser1232Cys
ENST00000664402.1:c.2237C>G	ENSP00000499475.1:p.Ser746Cys
ENST00000673971.1:c.*2693C>G	ENSP00000501192.1:n.*2693C>G
ENST00000262795.5:c.4091C>G	ENSP00000489147.1:p.Ser1364Cys
ENST00000414786.6:n.4279C>G
ENST00000445220.5:c.4073C>G	ENSP00000489407.1:p.Ser1358Cys