Canonical Allele Identifier: CA515264809

Gene: SHANK3

Linked Data

• COSMIC: COSM3555859 ; COSM3555860
• MyVariant Identifiers: chr22:g.51160649C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722221C>T , CM000684.2:g.50722221C>T	GRCh38
NC_000022.10:g.51160649C>T , CM000684.1:g.51160649C>T	GRCh37
NC_000022.9:g.49507515C>T	NCBI36
NG_008607.2:g.52867C>T
NG_070230.1:g.58005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3989C>T	ENSP00000489147.2:p.Pro1330Leu
ENST00000414786.7:n.4573C>T
ENST00000445220.7:c.3041C>T	ENSP00000489407.2:p.Pro1014Leu
ENST00000664402.2:c.2531C>T	ENSP00000499475.1:p.Pro844Leu
ENST00000673971.2:c.*2987C>T	ENSP00000501192.1:n.*2987C>T
ENST00000445220.6:c.3041C>T	ENSP00000489407.2:p.Pro1014Leu
ENST00000262795.6:c.3989C>T	ENSP00000489147.2:p.Pro1330Leu
ENST00000664402.1:c.2531C>T	ENSP00000499475.1:p.Pro844Leu
ENST00000673971.1:c.*2987C>T	ENSP00000501192.1:n.*2987C>T
ENST00000262795.5:c.4385C>T	ENSP00000489147.1:p.Pro1462Leu
ENST00000414786.6:n.4573C>T
ENST00000445220.5:c.4367C>T	ENSP00000489407.1:p.Pro1456Leu