Canonical Allele Identifier: CA515264437

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160531A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722103A>C , CM000684.2:g.50722103A>C	GRCh38
NC_000022.10:g.51160531A>C , CM000684.1:g.51160531A>C	GRCh37
NC_000022.9:g.49507397A>C	NCBI36
NG_008607.2:g.52749A>C
NG_070230.1:g.57887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3871A>C	ENSP00000489147.2:p.Lys1291Gln
ENST00000414786.7:n.4455A>C
ENST00000445220.7:c.2923A>C	ENSP00000489407.2:p.Lys975Gln
ENST00000664402.2:c.2413A>C	ENSP00000499475.1:p.Lys805Gln
ENST00000673971.2:c.*2869A>C	ENSP00000501192.1:n.*2869A>C
ENST00000445220.6:c.2923A>C	ENSP00000489407.2:p.Lys975Gln
ENST00000262795.6:c.3871A>C	ENSP00000489147.2:p.Lys1291Gln
ENST00000664402.1:c.2413A>C	ENSP00000499475.1:p.Lys805Gln
ENST00000673971.1:c.*2869A>C	ENSP00000501192.1:n.*2869A>C
ENST00000262795.5:c.4267A>C	ENSP00000489147.1:p.Lys1423Gln
ENST00000414786.6:n.4455A>C
ENST00000445220.5:c.4249A>C	ENSP00000489407.1:p.Lys1417Gln