Canonical Allele Identifier: CA515264524

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160560G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722132G>C , CM000684.2:g.50722132G>C	GRCh38
NC_000022.10:g.51160560G>C , CM000684.1:g.51160560G>C	GRCh37
NC_000022.9:g.49507426G>C	NCBI36
NG_008607.2:g.52778G>C
NG_070230.1:g.57916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3900G>C	ENSP00000489147.2:p.Leu1300=
ENST00000414786.7:n.4484G>C
ENST00000445220.7:c.2952G>C	ENSP00000489407.2:p.Leu984=
ENST00000664402.2:c.2442G>C	ENSP00000499475.1:p.Leu814=
ENST00000673971.2:c.*2898G>C	ENSP00000501192.1:n.*2898G>C
ENST00000445220.6:c.2952G>C	ENSP00000489407.2:p.Leu984=
ENST00000262795.6:c.3900G>C	ENSP00000489147.2:p.Leu1300=
ENST00000664402.1:c.2442G>C	ENSP00000499475.1:p.Leu814=
ENST00000673971.1:c.*2898G>C	ENSP00000501192.1:n.*2898G>C
ENST00000262795.5:c.4296G>C	ENSP00000489147.1:p.Leu1432=
ENST00000414786.6:n.4484G>C
ENST00000445220.5:c.4278G>C	ENSP00000489407.1:p.Leu1426=