Canonical Allele Identifier: CA515264607

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160585C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722157C>T , CM000684.2:g.50722157C>T	GRCh38
NC_000022.10:g.51160585C>T , CM000684.1:g.51160585C>T	GRCh37
NC_000022.9:g.49507451C>T	NCBI36
NG_008607.2:g.52803C>T
NG_070230.1:g.57941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3925C>T	ENSP00000489147.2:p.Leu1309Phe
ENST00000414786.7:n.4509C>T
ENST00000445220.7:c.2977C>T	ENSP00000489407.2:p.Leu993Phe
ENST00000664402.2:c.2467C>T	ENSP00000499475.1:p.Leu823Phe
ENST00000673971.2:c.*2923C>T	ENSP00000501192.1:n.*2923C>T
ENST00000445220.6:c.2977C>T	ENSP00000489407.2:p.Leu993Phe
ENST00000262795.6:c.3925C>T	ENSP00000489147.2:p.Leu1309Phe
ENST00000664402.1:c.2467C>T	ENSP00000499475.1:p.Leu823Phe
ENST00000673971.1:c.*2923C>T	ENSP00000501192.1:n.*2923C>T
ENST00000262795.5:c.4321C>T	ENSP00000489147.1:p.Leu1441Phe
ENST00000414786.6:n.4509C>T
ENST00000445220.5:c.4303C>T	ENSP00000489407.1:p.Leu1435Phe