Canonical Allele Identifier: CA515264857

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160664A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722236A>T , CM000684.2:g.50722236A>T	GRCh38
NC_000022.10:g.51160664A>T , CM000684.1:g.51160664A>T	GRCh37
NC_000022.9:g.49507530A>T	NCBI36
NG_008607.2:g.52882A>T
NG_070230.1:g.58020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4004A>T	ENSP00000489147.2:p.Gln1335Leu
ENST00000414786.7:n.4588A>T
ENST00000445220.7:c.3056A>T	ENSP00000489407.2:p.Gln1019Leu
ENST00000664402.2:c.2546A>T	ENSP00000499475.1:p.Gln849Leu
ENST00000673971.2:c.*3002A>T	ENSP00000501192.1:n.*3002A>T
ENST00000445220.6:c.3056A>T	ENSP00000489407.2:p.Gln1019Leu
ENST00000262795.6:c.4004A>T	ENSP00000489147.2:p.Gln1335Leu
ENST00000664402.1:c.2546A>T	ENSP00000499475.1:p.Gln849Leu
ENST00000673971.1:c.*3002A>T	ENSP00000501192.1:n.*3002A>T
ENST00000262795.5:c.4400A>T	ENSP00000489147.1:p.Gln1467Leu
ENST00000414786.6:n.4588A>T
ENST00000445220.5:c.4382A>T	ENSP00000489407.1:p.Gln1461Leu