Canonical Allele Identifier: CA515263495

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3033611
• ClinVar RCV Id: RCV004536918
• MyVariant Identifiers: chr22:g.51160217T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721789T>G , CM000684.2:g.50721789T>G	GRCh38
NC_000022.10:g.51160217T>G , CM000684.1:g.51160217T>G	GRCh37
NC_000022.9:g.49507083T>G	NCBI36
NG_008607.2:g.52435T>G
NG_070230.1:g.57573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3557T>G	ENSP00000489147.2:p.Leu1186Arg
ENST00000414786.7:n.4141T>G
ENST00000445220.7:c.2609T>G	ENSP00000489407.2:p.Leu870Arg
ENST00000664402.2:c.2099T>G	ENSP00000499475.1:p.Leu700Arg
ENST00000673971.2:c.*2555T>G	ENSP00000501192.1:n.*2555T>G
ENST00000445220.6:c.2609T>G	ENSP00000489407.2:p.Leu870Arg
ENST00000262795.6:c.3557T>G	ENSP00000489147.2:p.Leu1186Arg
ENST00000664402.1:c.2099T>G	ENSP00000499475.1:p.Leu700Arg
ENST00000673971.1:c.*2555T>G	ENSP00000501192.1:n.*2555T>G
ENST00000262795.5:c.3953T>G	ENSP00000489147.1:p.Leu1318Arg
ENST00000414786.6:n.4141T>G
ENST00000445220.5:c.3935T>G	ENSP00000489407.1:p.Leu1312Arg