Canonical Allele Identifier: CA515262079

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159770C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721342C>T , CM000684.2:g.50721342C>T	GRCh38
NC_000022.10:g.51159770C>T , CM000684.1:g.51159770C>T	GRCh37
NC_000022.9:g.49506636C>T	NCBI36
NG_008607.2:g.51988C>T
NG_070230.1:g.57126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3110C>T	ENSP00000489147.2:p.Pro1037Leu
ENST00000414786.7:n.3694C>T
ENST00000445220.7:c.2162C>T	ENSP00000489407.2:p.Pro721Leu
ENST00000664402.2:c.1652C>T	ENSP00000499475.1:p.Pro551Leu
ENST00000673971.2:c.*2108C>T	ENSP00000501192.1:n.*2108C>T
ENST00000445220.6:c.2162C>T	ENSP00000489407.2:p.Pro721Leu
ENST00000262795.6:c.3110C>T	ENSP00000489147.2:p.Pro1037Leu
ENST00000664402.1:c.1652C>T	ENSP00000499475.1:p.Pro551Leu
ENST00000673971.1:c.*2108C>T	ENSP00000501192.1:n.*2108C>T
ENST00000262795.5:c.3506C>T	ENSP00000489147.1:p.Pro1169Leu
ENST00000414786.6:n.3694C>T
ENST00000445220.5:c.3488C>T	ENSP00000489407.1:p.Pro1163Leu