Canonical Allele Identifier: CA515264901

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160678C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722250C>A , CM000684.2:g.50722250C>A	GRCh38
NC_000022.10:g.51160678C>A , CM000684.1:g.51160678C>A	GRCh37
NC_000022.9:g.49507544C>A	NCBI36
NG_008607.2:g.52896C>A
NG_070230.1:g.58034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4018C>A	ENSP00000489147.2:p.Leu1340Ile
ENST00000414786.7:n.4602C>A
ENST00000445220.7:c.3070C>A	ENSP00000489407.2:p.Leu1024Ile
ENST00000664402.2:c.2560C>A	ENSP00000499475.1:p.Leu854Ile
ENST00000673971.2:c.*3016C>A	ENSP00000501192.1:n.*3016C>A
ENST00000445220.6:c.3070C>A	ENSP00000489407.2:p.Leu1024Ile
ENST00000262795.6:c.4018C>A	ENSP00000489147.2:p.Leu1340Ile
ENST00000664402.1:c.2560C>A	ENSP00000499475.1:p.Leu854Ile
ENST00000673971.1:c.*3016C>A	ENSP00000501192.1:n.*3016C>A
ENST00000262795.5:c.4414C>A	ENSP00000489147.1:p.Leu1472Ile
ENST00000414786.6:n.4602C>A
ENST00000445220.5:c.4396C>A	ENSP00000489407.1:p.Leu1466Ile