Canonical Allele Identifier: CA515263438

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160198T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721770T>C , CM000684.2:g.50721770T>C	GRCh38
NC_000022.10:g.51160198T>C , CM000684.1:g.51160198T>C	GRCh37
NC_000022.9:g.49507064T>C	NCBI36
NG_008607.2:g.52416T>C
NG_070230.1:g.57554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3538T>C	ENSP00000489147.2:p.Phe1180Leu
ENST00000414786.7:n.4122T>C
ENST00000445220.7:c.2590T>C	ENSP00000489407.2:p.Phe864Leu
ENST00000664402.2:c.2080T>C	ENSP00000499475.1:p.Phe694Leu
ENST00000673971.2:c.*2536T>C	ENSP00000501192.1:n.*2536T>C
ENST00000445220.6:c.2590T>C	ENSP00000489407.2:p.Phe864Leu
ENST00000262795.6:c.3538T>C	ENSP00000489147.2:p.Phe1180Leu
ENST00000664402.1:c.2080T>C	ENSP00000499475.1:p.Phe694Leu
ENST00000673971.1:c.*2536T>C	ENSP00000501192.1:n.*2536T>C
ENST00000262795.5:c.3934T>C	ENSP00000489147.1:p.Phe1312Leu
ENST00000414786.6:n.4122T>C
ENST00000445220.5:c.3916T>C	ENSP00000489407.1:p.Phe1306Leu