Canonical Allele Identifier: CA515254845

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51135994C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697566C>T , CM000684.2:g.50697566C>T	GRCh38
NC_000022.10:g.51135994C>T , CM000684.1:g.51135994C>T	GRCh37
NC_000022.9:g.49482860C>T	NCBI36
NG_008607.2:g.28212C>T
NG_070230.1:g.33431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.950C>T	ENSP00000489147.2:p.Pro317Leu
ENST00000414786.7:n.1534C>T
ENST00000445220.7:c.2C>T	ENSP00000489407.2:p.Pro1Leu
ENST00000673971.2:c.1307C>T	ENSP00000501192.1:p.Pro436Leu
ENST00000445220.6:c.2C>T	ENSP00000489407.2:p.Pro1Leu
ENST00000262795.6:c.950C>T	ENSP00000489147.2:p.Pro317Leu
ENST00000673971.1:c.1307C>T	ENSP00000501192.1:p.Pro436Leu
ENST00000673995.1:c.3C>T
ENST00000262795.5:c.1346C>T	ENSP00000489147.1:p.Pro449Leu
ENST00000414786.6:n.1534C>T
ENST00000445220.5:c.1328C>T	ENSP00000489407.1:p.Pro443Leu