Canonical Allele Identifier: CA515261054

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159490C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721062C>G , CM000684.2:g.50721062C>G	GRCh38
NC_000022.10:g.51159490C>G , CM000684.1:g.51159490C>G	GRCh37
NC_000022.9:g.49506356C>G	NCBI36
NG_008607.2:g.51708C>G
NG_070230.1:g.56846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2830C>G	ENSP00000489147.2:p.Leu944Val
ENST00000414786.7:n.3414C>G
ENST00000445220.7:c.1882C>G	ENSP00000489407.2:p.Leu628Val
ENST00000664402.2:c.1372C>G	ENSP00000499475.1:p.Leu458Val
ENST00000673971.2:c.*1828C>G	ENSP00000501192.1:n.*1828C>G
ENST00000445220.6:c.1882C>G	ENSP00000489407.2:p.Leu628Val
ENST00000262795.6:c.2830C>G	ENSP00000489147.2:p.Leu944Val
ENST00000664402.1:c.1372C>G	ENSP00000499475.1:p.Leu458Val
ENST00000673971.1:c.*1828C>G	ENSP00000501192.1:n.*1828C>G
ENST00000262795.5:c.3226C>G	ENSP00000489147.1:p.Leu1076Val
ENST00000414786.6:n.3414C>G
ENST00000445220.5:c.3208C>G	ENSP00000489407.1:p.Leu1070Val