Canonical Allele Identifier: CA515267292

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51169466C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731038C>G , CM000684.2:g.50731038C>G	GRCh38
NC_000022.10:g.51169466C>G , CM000684.1:g.51169466C>G	GRCh37
NC_000022.9:g.49516332C>G	NCBI36
NG_008607.2:g.61684C>G
NG_070230.1:g.66822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4550C>G	ENSP00000489147.2:p.Pro1517Arg
ENST00000414786.7:n.5134C>G
ENST00000445220.7:c.3602C>G	ENSP00000489407.2:p.Pro1201Arg
ENST00000664402.2:c.3092C>G	ENSP00000499475.1:p.Pro1031Arg
ENST00000673971.2:c.*3548C>G	ENSP00000501192.1:n.*3548C>G
ENST00000445220.6:c.3602C>G	ENSP00000489407.2:p.Pro1201Arg
ENST00000262795.6:c.4550C>G	ENSP00000489147.2:p.Pro1517Arg
ENST00000659388.1:c.365C>G	ENSP00000499632.1:p.Pro122Arg
ENST00000664402.1:c.3092C>G	ENSP00000499475.1:p.Pro1031Arg
ENST00000673971.1:c.*3548C>G	ENSP00000501192.1:n.*3548C>G
ENST00000262795.5:c.4919C>G	ENSP00000489147.1:p.Pro1640Arg
ENST00000414786.6:n.5134C>G
ENST00000445220.5:c.4901C>G	ENSP00000489407.1:p.Pro1634Arg