Canonical Allele Identifier: CA515260149

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3061157
• ClinVar RCV Id: RCV004542636
• MyVariant Identifiers: chr22:g.51159166C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720738C>G , CM000684.2:g.50720738C>G	GRCh38
NC_000022.10:g.51159166C>G , CM000684.1:g.51159166C>G	GRCh37
NC_000022.9:g.49506032C>G	NCBI36
NG_008607.2:g.51384C>G
NG_070230.1:g.56522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2506C>G	ENSP00000489147.2:p.Leu836Val
ENST00000414786.7:n.3090C>G
ENST00000445220.7:c.1558C>G	ENSP00000489407.2:p.Leu520Val
ENST00000664402.2:c.1048C>G	ENSP00000499475.1:p.Leu350Val
ENST00000673971.2:c.*1504C>G	ENSP00000501192.1:n.*1504C>G
ENST00000445220.6:c.1558C>G	ENSP00000489407.2:p.Leu520Val
ENST00000262795.6:c.2506C>G	ENSP00000489147.2:p.Leu836Val
ENST00000664402.1:c.1048C>G	ENSP00000499475.1:p.Leu350Val
ENST00000673971.1:c.*1504C>G	ENSP00000501192.1:n.*1504C>G
ENST00000262795.5:c.2902C>G	ENSP00000489147.1:p.Leu968Val
ENST00000414786.6:n.3090C>G
ENST00000445220.5:c.2884C>G	ENSP00000489407.1:p.Leu962Val