Canonical Allele Identifier: CA515264336

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160495G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722067G>C , CM000684.2:g.50722067G>C	GRCh38
NC_000022.10:g.51160495G>C , CM000684.1:g.51160495G>C	GRCh37
NC_000022.9:g.49507361G>C	NCBI36
NG_008607.2:g.52713G>C
NG_070230.1:g.57851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3835G>C	ENSP00000489147.2:p.Val1279Leu
ENST00000414786.7:n.4419G>C
ENST00000445220.7:c.2887G>C	ENSP00000489407.2:p.Val963Leu
ENST00000664402.2:c.2377G>C	ENSP00000499475.1:p.Val793Leu
ENST00000673971.2:c.*2833G>C	ENSP00000501192.1:n.*2833G>C
ENST00000445220.6:c.2887G>C	ENSP00000489407.2:p.Val963Leu
ENST00000262795.6:c.3835G>C	ENSP00000489147.2:p.Val1279Leu
ENST00000664402.1:c.2377G>C	ENSP00000499475.1:p.Val793Leu
ENST00000673971.1:c.*2833G>C	ENSP00000501192.1:n.*2833G>C
ENST00000262795.5:c.4231G>C	ENSP00000489147.1:p.Val1411Leu
ENST00000414786.6:n.4419G>C
ENST00000445220.5:c.4213G>C	ENSP00000489407.1:p.Val1405Leu