Canonical Allele Identifier: CA515264618

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160590G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722162G>C , CM000684.2:g.50722162G>C	GRCh38
NC_000022.10:g.51160590G>C , CM000684.1:g.51160590G>C	GRCh37
NC_000022.9:g.49507456G>C	NCBI36
NG_008607.2:g.52808G>C
NG_070230.1:g.57946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3930G>C	ENSP00000489147.2:p.Met1310Ile
ENST00000414786.7:n.4514G>C
ENST00000445220.7:c.2982G>C	ENSP00000489407.2:p.Met994Ile
ENST00000664402.2:c.2472G>C	ENSP00000499475.1:p.Met824Ile
ENST00000673971.2:c.*2928G>C	ENSP00000501192.1:n.*2928G>C
ENST00000445220.6:c.2982G>C	ENSP00000489407.2:p.Met994Ile
ENST00000262795.6:c.3930G>C	ENSP00000489147.2:p.Met1310Ile
ENST00000664402.1:c.2472G>C	ENSP00000499475.1:p.Met824Ile
ENST00000673971.1:c.*2928G>C	ENSP00000501192.1:n.*2928G>C
ENST00000262795.5:c.4326G>C	ENSP00000489147.1:p.Met1442Ile
ENST00000414786.6:n.4514G>C
ENST00000445220.5:c.4308G>C	ENSP00000489407.1:p.Met1436Ile