Canonical Allele Identifier: CA515261330

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159590T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721162T>G , CM000684.2:g.50721162T>G	GRCh38
NC_000022.10:g.51159590T>G , CM000684.1:g.51159590T>G	GRCh37
NC_000022.9:g.49506456T>G	NCBI36
NG_008607.2:g.51808T>G
NG_070230.1:g.56946T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2930T>G	ENSP00000489147.2:p.Leu977Arg
ENST00000414786.7:n.3514T>G
ENST00000445220.7:c.1982T>G	ENSP00000489407.2:p.Leu661Arg
ENST00000664402.2:c.1472T>G	ENSP00000499475.1:p.Leu491Arg
ENST00000673971.2:c.*1928T>G	ENSP00000501192.1:n.*1928T>G
ENST00000445220.6:c.1982T>G	ENSP00000489407.2:p.Leu661Arg
ENST00000262795.6:c.2930T>G	ENSP00000489147.2:p.Leu977Arg
ENST00000664402.1:c.1472T>G	ENSP00000499475.1:p.Leu491Arg
ENST00000673971.1:c.*1928T>G	ENSP00000501192.1:n.*1928T>G
ENST00000262795.5:c.3326T>G	ENSP00000489147.1:p.Leu1109Arg
ENST00000414786.6:n.3514T>G
ENST00000445220.5:c.3308T>G	ENSP00000489407.1:p.Leu1103Arg