Canonical Allele Identifier: CA515264423

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083296118
• MyVariant Identifiers: chr22:g.51160526T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722098T>C , CM000684.2:g.50722098T>C	GRCh38
NC_000022.10:g.51160526T>C , CM000684.1:g.51160526T>C	GRCh37
NC_000022.9:g.49507392T>C	NCBI36
NG_008607.2:g.52744T>C
NG_070230.1:g.57882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3866T>C	ENSP00000489147.2:p.Leu1289Pro
ENST00000414786.7:n.4450T>C
ENST00000445220.7:c.2918T>C	ENSP00000489407.2:p.Leu973Pro
ENST00000664402.2:c.2408T>C	ENSP00000499475.1:p.Leu803Pro
ENST00000673971.2:c.*2864T>C	ENSP00000501192.1:n.*2864T>C
ENST00000445220.6:c.2918T>C	ENSP00000489407.2:p.Leu973Pro
ENST00000262795.6:c.3866T>C	ENSP00000489147.2:p.Leu1289Pro
ENST00000664402.1:c.2408T>C	ENSP00000499475.1:p.Leu803Pro
ENST00000673971.1:c.*2864T>C	ENSP00000501192.1:n.*2864T>C
ENST00000262795.5:c.4262T>C	ENSP00000489147.1:p.Leu1421Pro
ENST00000414786.6:n.4450T>C
ENST00000445220.5:c.4244T>C	ENSP00000489407.1:p.Leu1415Pro