Canonical Allele Identifier: CA515267315

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2230761
• ClinVar RCV Id: RCV002717772
• MyVariant Identifiers: chr22:g.51169472C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731044C>T , CM000684.2:g.50731044C>T	GRCh38
NC_000022.10:g.51169472C>T , CM000684.1:g.51169472C>T	GRCh37
NC_000022.9:g.49516338C>T	NCBI36
NG_008607.2:g.61690C>T
NG_070230.1:g.66828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4556C>T	ENSP00000489147.2:p.Pro1519Leu
ENST00000414786.7:n.5140C>T
ENST00000445220.7:c.3608C>T	ENSP00000489407.2:p.Pro1203Leu
ENST00000664402.2:c.3098C>T	ENSP00000499475.1:p.Pro1033Leu
ENST00000673971.2:c.*3554C>T	ENSP00000501192.1:n.*3554C>T
ENST00000445220.6:c.3608C>T	ENSP00000489407.2:p.Pro1203Leu
ENST00000262795.6:c.4556C>T	ENSP00000489147.2:p.Pro1519Leu
ENST00000659388.1:c.371C>T	ENSP00000499632.1:p.Pro124Leu
ENST00000664402.1:c.3098C>T	ENSP00000499475.1:p.Pro1033Leu
ENST00000673971.1:c.*3554C>T	ENSP00000501192.1:n.*3554C>T
ENST00000262795.5:c.4925C>T	ENSP00000489147.1:p.Pro1642Leu
ENST00000414786.6:n.5140C>T
ENST00000445220.5:c.4907C>T	ENSP00000489407.1:p.Pro1636Leu