Canonical Allele Identifier: CA515259277

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158869C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720441C>G , CM000684.2:g.50720441C>G	GRCh38
NC_000022.10:g.51158869C>G , CM000684.1:g.51158869C>G	GRCh37
NC_000022.9:g.49505735C>G	NCBI36
NG_008607.2:g.51087C>G
NG_070230.1:g.56225C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2209C>G	ENSP00000489147.2:p.Leu737Val
ENST00000414786.7:n.2793C>G
ENST00000445220.7:c.1261C>G	ENSP00000489407.2:p.Leu421Val
ENST00000664402.2:c.751C>G	ENSP00000499475.1:p.Leu251Val
ENST00000673971.2:c.*1207C>G	ENSP00000501192.1:n.*1207C>G
ENST00000445220.6:c.1261C>G	ENSP00000489407.2:p.Leu421Val
ENST00000262795.6:c.2209C>G	ENSP00000489147.2:p.Leu737Val
ENST00000664402.1:c.751C>G	ENSP00000499475.1:p.Leu251Val
ENST00000673971.1:c.*1207C>G	ENSP00000501192.1:n.*1207C>G
ENST00000262795.5:c.2605C>G	ENSP00000489147.1:p.Leu869Val
ENST00000414786.6:n.2793C>G
ENST00000445220.5:c.2587C>G	ENSP00000489407.1:p.Leu863Val