Canonical Allele Identifier: CA515262934

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160012C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721584C>G , CM000684.2:g.50721584C>G	GRCh38
NC_000022.10:g.51160012C>G , CM000684.1:g.51160012C>G	GRCh37
NC_000022.9:g.49506878C>G	NCBI36
NG_008607.2:g.52230C>G
NG_070230.1:g.57368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3352C>G	ENSP00000489147.2:p.Leu1118Val
ENST00000414786.7:n.3936C>G
ENST00000445220.7:c.2404C>G	ENSP00000489407.2:p.Leu802Val
ENST00000664402.2:c.1894C>G	ENSP00000499475.1:p.Leu632Val
ENST00000673971.2:c.*2350C>G	ENSP00000501192.1:n.*2350C>G
ENST00000445220.6:c.2404C>G	ENSP00000489407.2:p.Leu802Val
ENST00000262795.6:c.3352C>G	ENSP00000489147.2:p.Leu1118Val
ENST00000664402.1:c.1894C>G	ENSP00000499475.1:p.Leu632Val
ENST00000673971.1:c.*2350C>G	ENSP00000501192.1:n.*2350C>G
ENST00000262795.5:c.3748C>G	ENSP00000489147.1:p.Leu1250Val
ENST00000414786.6:n.3936C>G
ENST00000445220.5:c.3730C>G	ENSP00000489407.1:p.Leu1244Val