Canonical Allele Identifier: CA515261081

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159500T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721072T>G , CM000684.2:g.50721072T>G	GRCh38
NC_000022.10:g.51159500T>G , CM000684.1:g.51159500T>G	GRCh37
NC_000022.9:g.49506366T>G	NCBI36
NG_008607.2:g.51718T>G
NG_070230.1:g.56856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2840T>G	ENSP00000489147.2:p.Leu947Trp
ENST00000414786.7:n.3424T>G
ENST00000445220.7:c.1892T>G	ENSP00000489407.2:p.Leu631Trp
ENST00000664402.2:c.1382T>G	ENSP00000499475.1:p.Leu461Trp
ENST00000673971.2:c.*1838T>G	ENSP00000501192.1:n.*1838T>G
ENST00000445220.6:c.1892T>G	ENSP00000489407.2:p.Leu631Trp
ENST00000262795.6:c.2840T>G	ENSP00000489147.2:p.Leu947Trp
ENST00000664402.1:c.1382T>G	ENSP00000499475.1:p.Leu461Trp
ENST00000673971.1:c.*1838T>G	ENSP00000501192.1:n.*1838T>G
ENST00000262795.5:c.3236T>G	ENSP00000489147.1:p.Leu1079Trp
ENST00000414786.6:n.3424T>G
ENST00000445220.5:c.3218T>G	ENSP00000489407.1:p.Leu1073Trp