Canonical Allele Identifier: CA515264531

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160561C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722133C>T , CM000684.2:g.50722133C>T	GRCh38
NC_000022.10:g.51160561C>T , CM000684.1:g.51160561C>T	GRCh37
NC_000022.9:g.49507427C>T	NCBI36
NG_008607.2:g.52779C>T
NG_070230.1:g.57917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3901C>T	ENSP00000489147.2:p.Leu1301=
ENST00000414786.7:n.4485C>T
ENST00000445220.7:c.2953C>T	ENSP00000489407.2:p.Leu985=
ENST00000664402.2:c.2443C>T	ENSP00000499475.1:p.Leu815=
ENST00000673971.2:c.*2899C>T	ENSP00000501192.1:n.*2899C>T
ENST00000445220.6:c.2953C>T	ENSP00000489407.2:p.Leu985=
ENST00000262795.6:c.3901C>T	ENSP00000489147.2:p.Leu1301=
ENST00000664402.1:c.2443C>T	ENSP00000499475.1:p.Leu815=
ENST00000673971.1:c.*2899C>T	ENSP00000501192.1:n.*2899C>T
ENST00000262795.5:c.4297C>T	ENSP00000489147.1:p.Leu1433=
ENST00000414786.6:n.4485C>T
ENST00000445220.5:c.4279C>T	ENSP00000489407.1:p.Leu1427=