Canonical Allele Identifier: CA515263245

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160129C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721701C>G , CM000684.2:g.50721701C>G	GRCh38
NC_000022.10:g.51160129C>G , CM000684.1:g.51160129C>G	GRCh37
NC_000022.9:g.49506995C>G	NCBI36
NG_008607.2:g.52347C>G
NG_070230.1:g.57485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3469C>G	ENSP00000489147.2:p.Leu1157Val
ENST00000414786.7:n.4053C>G
ENST00000445220.7:c.2521C>G	ENSP00000489407.2:p.Leu841Val
ENST00000664402.2:c.2011C>G	ENSP00000499475.1:p.Leu671Val
ENST00000673971.2:c.*2467C>G	ENSP00000501192.1:n.*2467C>G
ENST00000445220.6:c.2521C>G	ENSP00000489407.2:p.Leu841Val
ENST00000262795.6:c.3469C>G	ENSP00000489147.2:p.Leu1157Val
ENST00000664402.1:c.2011C>G	ENSP00000499475.1:p.Leu671Val
ENST00000673971.1:c.*2467C>G	ENSP00000501192.1:n.*2467C>G
ENST00000262795.5:c.3865C>G	ENSP00000489147.1:p.Leu1289Val
ENST00000414786.6:n.4053C>G
ENST00000445220.5:c.3847C>G	ENSP00000489407.1:p.Leu1283Val