Canonical Allele Identifier: CA515266917

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730942-T-C
• MyVariant Identifiers: chr22:g.51169370T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730942T>C , CM000684.2:g.50730942T>C	GRCh38
NC_000022.10:g.51169370T>C , CM000684.1:g.51169370T>C	GRCh37
NC_000022.9:g.49516236T>C	NCBI36
NG_008607.2:g.61588T>C
NG_070230.1:g.66726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4454T>C	ENSP00000489147.2:p.Leu1485Pro
ENST00000414786.7:n.5038T>C
ENST00000445220.7:c.3506T>C	ENSP00000489407.2:p.Leu1169Pro
ENST00000664402.2:c.2996T>C	ENSP00000499475.1:p.Leu999Pro
ENST00000673971.2:c.*3452T>C	ENSP00000501192.1:n.*3452T>C
ENST00000445220.6:c.3506T>C	ENSP00000489407.2:p.Leu1169Pro
ENST00000262795.6:c.4454T>C	ENSP00000489147.2:p.Leu1485Pro
ENST00000659388.1:c.269T>C	ENSP00000499632.1:p.Leu90Pro
ENST00000664402.1:c.2996T>C	ENSP00000499475.1:p.Leu999Pro
ENST00000673971.1:c.*3452T>C	ENSP00000501192.1:n.*3452T>C
ENST00000262795.5:c.4823T>C	ENSP00000489147.1:p.Leu1608Pro
ENST00000414786.6:n.5038T>C
ENST00000445220.5:c.4805T>C	ENSP00000489407.1:p.Leu1602Pro