Canonical Allele Identifier: CA515263356

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160169G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721741G>C , CM000684.2:g.50721741G>C	GRCh38
NC_000022.10:g.51160169G>C , CM000684.1:g.51160169G>C	GRCh37
NC_000022.9:g.49507035G>C	NCBI36
NG_008607.2:g.52387G>C
NG_070230.1:g.57525G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3509G>C	ENSP00000489147.2:p.Arg1170Pro
ENST00000414786.7:n.4093G>C
ENST00000445220.7:c.2561G>C	ENSP00000489407.2:p.Arg854Pro
ENST00000664402.2:c.2051G>C	ENSP00000499475.1:p.Arg684Pro
ENST00000673971.2:c.*2507G>C	ENSP00000501192.1:n.*2507G>C
ENST00000445220.6:c.2561G>C	ENSP00000489407.2:p.Arg854Pro
ENST00000262795.6:c.3509G>C	ENSP00000489147.2:p.Arg1170Pro
ENST00000664402.1:c.2051G>C	ENSP00000499475.1:p.Arg684Pro
ENST00000673971.1:c.*2507G>C	ENSP00000501192.1:n.*2507G>C
ENST00000262795.5:c.3905G>C	ENSP00000489147.1:p.Arg1302Pro
ENST00000414786.6:n.4093G>C
ENST00000445220.5:c.3887G>C	ENSP00000489407.1:p.Arg1296Pro