Canonical Allele Identifier: CA515262638

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721495-C-T
• MyVariant Identifiers: chr22:g.51159923C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721495C>T , CM000684.2:g.50721495C>T	GRCh38
NC_000022.10:g.51159923C>T , CM000684.1:g.51159923C>T	GRCh37
NC_000022.9:g.49506789C>T	NCBI36
NG_008607.2:g.52141C>T
NG_070230.1:g.57279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3263C>T	ENSP00000489147.2:p.Pro1088Leu
ENST00000414786.7:n.3847C>T
ENST00000445220.7:c.2315C>T	ENSP00000489407.2:p.Pro772Leu
ENST00000664402.2:c.1805C>T	ENSP00000499475.1:p.Pro602Leu
ENST00000673971.2:c.*2261C>T	ENSP00000501192.1:n.*2261C>T
ENST00000445220.6:c.2315C>T	ENSP00000489407.2:p.Pro772Leu
ENST00000262795.6:c.3263C>T	ENSP00000489147.2:p.Pro1088Leu
ENST00000664402.1:c.1805C>T	ENSP00000499475.1:p.Pro602Leu
ENST00000673971.1:c.*2261C>T	ENSP00000501192.1:n.*2261C>T
ENST00000262795.5:c.3659C>T	ENSP00000489147.1:p.Pro1220Leu
ENST00000414786.6:n.3847C>T
ENST00000445220.5:c.3641C>T	ENSP00000489407.1:p.Pro1214Leu