Canonical Allele Identifier: CA16044390

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 375622
• ClinVar RCV Id: RCV000417108
• dbSNP Id: rs1057519406
• MyVariant Identifiers: chr22:g.51123079G>T (hg19) ; chr22:g.50684651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50684651G>T , CM000684.2:g.50684651G>T	GRCh38
NC_000022.10:g.51123079G>T , CM000684.1:g.51123079G>T	GRCh37
NC_000022.9:g.49469945G>T	NCBI36
NG_008607.2:g.15010G>T
NG_070230.1:g.20379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.673G>T	ENSP00000489147.2:p.Val225Leu
ENST00000414786.7:n.1257G>T
ENST00000673971.2:c.1030G>T	ENSP00000501192.1:p.Val344Leu
ENST00000691768.1:n.993G>T
ENST00000692848.1:c.1030G>T	ENSP00000510794.1:p.Val344Leu
ENST00000262795.6:c.673G>T	ENSP00000489147.2:p.Val225Leu
ENST00000673971.1:c.1030G>T	ENSP00000501192.1:p.Val344Leu
ENST00000262795.5:c.1030G>T	ENSP00000489147.1:p.Val344Leu
ENST00000414786.6:n.1257G>T
ENST00000445220.5:c.1030G>T	ENSP00000489407.1:p.Val344Leu
NM_033517.1:c.1030G>T	NP_277052.1:p.Val344Leu
NM_001372044.1:c.1255G>T	NP_001358973.1:p.Val419Leu
NM_001372044.2:c.1255G>T MANE Select	NP_001358973.1:p.Val419Leu