Canonical Allele Identifier: CA515262110

Gene: SHANK3

Linked Data

• COSMIC: COSM1225614 ; COSM1225615
• MyVariant Identifiers: chr22:g.51159779C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721351C>T , CM000684.2:g.50721351C>T	GRCh38
NC_000022.10:g.51159779C>T , CM000684.1:g.51159779C>T	GRCh37
NC_000022.9:g.49506645C>T	NCBI36
NG_008607.2:g.51997C>T
NG_070230.1:g.57135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3119C>T	ENSP00000489147.2:p.Ala1040Val
ENST00000414786.7:n.3703C>T
ENST00000445220.7:c.2171C>T	ENSP00000489407.2:p.Ala724Val
ENST00000664402.2:c.1661C>T	ENSP00000499475.1:p.Ala554Val
ENST00000673971.2:c.*2117C>T	ENSP00000501192.1:n.*2117C>T
ENST00000445220.6:c.2171C>T	ENSP00000489407.2:p.Ala724Val
ENST00000262795.6:c.3119C>T	ENSP00000489147.2:p.Ala1040Val
ENST00000664402.1:c.1661C>T	ENSP00000499475.1:p.Ala554Val
ENST00000673971.1:c.*2117C>T	ENSP00000501192.1:n.*2117C>T
ENST00000262795.5:c.3515C>T	ENSP00000489147.1:p.Ala1172Val
ENST00000414786.6:n.3703C>T
ENST00000445220.5:c.3497C>T	ENSP00000489407.1:p.Ala1166Val