Canonical Allele Identifier: CA515264949

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160692C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722264C>G , CM000684.2:g.50722264C>G	GRCh38
NC_000022.10:g.51160692C>G , CM000684.1:g.51160692C>G	GRCh37
NC_000022.9:g.49507558C>G	NCBI36
NG_008607.2:g.52910C>G
NG_070230.1:g.58048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4032C>G	ENSP00000489147.2:p.Pro1344=
ENST00000414786.7:n.4616C>G
ENST00000445220.7:c.3084C>G	ENSP00000489407.2:p.Pro1028=
ENST00000664402.2:c.2574C>G	ENSP00000499475.1:p.Pro858=
ENST00000673971.2:c.*3030C>G	ENSP00000501192.1:n.*3030C>G
ENST00000445220.6:c.3084C>G	ENSP00000489407.2:p.Pro1028=
ENST00000262795.6:c.4032C>G	ENSP00000489147.2:p.Pro1344=
ENST00000664402.1:c.2574C>G	ENSP00000499475.1:p.Pro858=
ENST00000673971.1:c.*3030C>G	ENSP00000501192.1:n.*3030C>G
ENST00000262795.5:c.4428C>G	ENSP00000489147.1:p.Pro1476=
ENST00000414786.6:n.4616C>G
ENST00000445220.5:c.4410C>G	ENSP00000489407.1:p.Pro1470=