Canonical Allele Identifier: CA515262180

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159799G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721371G>C , CM000684.2:g.50721371G>C	GRCh38
NC_000022.10:g.51159799G>C , CM000684.1:g.51159799G>C	GRCh37
NC_000022.9:g.49506665G>C	NCBI36
NG_008607.2:g.52017G>C
NG_070230.1:g.57155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3139G>C	ENSP00000489147.2:p.Val1047Leu
ENST00000414786.7:n.3723G>C
ENST00000445220.7:c.2191G>C	ENSP00000489407.2:p.Val731Leu
ENST00000664402.2:c.1681G>C	ENSP00000499475.1:p.Val561Leu
ENST00000673971.2:c.*2137G>C	ENSP00000501192.1:n.*2137G>C
ENST00000445220.6:c.2191G>C	ENSP00000489407.2:p.Val731Leu
ENST00000262795.6:c.3139G>C	ENSP00000489147.2:p.Val1047Leu
ENST00000664402.1:c.1681G>C	ENSP00000499475.1:p.Val561Leu
ENST00000673971.1:c.*2137G>C	ENSP00000501192.1:n.*2137G>C
ENST00000262795.5:c.3535G>C	ENSP00000489147.1:p.Val1179Leu
ENST00000414786.6:n.3723G>C
ENST00000445220.5:c.3517G>C	ENSP00000489407.1:p.Val1173Leu