Canonical Allele Identifier: CA515262845

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159985A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721557A>C , CM000684.2:g.50721557A>C	GRCh38
NC_000022.10:g.51159985A>C , CM000684.1:g.51159985A>C	GRCh37
NC_000022.9:g.49506851A>C	NCBI36
NG_008607.2:g.52203A>C
NG_070230.1:g.57341A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3325A>C	ENSP00000489147.2:p.Met1109Leu
ENST00000414786.7:n.3909A>C
ENST00000445220.7:c.2377A>C	ENSP00000489407.2:p.Met793Leu
ENST00000664402.2:c.1867A>C	ENSP00000499475.1:p.Met623Leu
ENST00000673971.2:c.*2323A>C	ENSP00000501192.1:n.*2323A>C
ENST00000445220.6:c.2377A>C	ENSP00000489407.2:p.Met793Leu
ENST00000262795.6:c.3325A>C	ENSP00000489147.2:p.Met1109Leu
ENST00000664402.1:c.1867A>C	ENSP00000499475.1:p.Met623Leu
ENST00000673971.1:c.*2323A>C	ENSP00000501192.1:n.*2323A>C
ENST00000262795.5:c.3721A>C	ENSP00000489147.1:p.Met1241Leu
ENST00000414786.6:n.3909A>C
ENST00000445220.5:c.3703A>C	ENSP00000489407.1:p.Met1235Leu