Canonical Allele Identifier: CA515263140

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160091C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721663C>T , CM000684.2:g.50721663C>T	GRCh38
NC_000022.10:g.51160091C>T , CM000684.1:g.51160091C>T	GRCh37
NC_000022.9:g.49506957C>T	NCBI36
NG_008607.2:g.52309C>T
NG_070230.1:g.57447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3431C>T	ENSP00000489147.2:p.Pro1144Leu
ENST00000414786.7:n.4015C>T
ENST00000445220.7:c.2483C>T	ENSP00000489407.2:p.Pro828Leu
ENST00000664402.2:c.1973C>T	ENSP00000499475.1:p.Pro658Leu
ENST00000673971.2:c.*2429C>T	ENSP00000501192.1:n.*2429C>T
ENST00000445220.6:c.2483C>T	ENSP00000489407.2:p.Pro828Leu
ENST00000262795.6:c.3431C>T	ENSP00000489147.2:p.Pro1144Leu
ENST00000664402.1:c.1973C>T	ENSP00000499475.1:p.Pro658Leu
ENST00000673971.1:c.*2429C>T	ENSP00000501192.1:n.*2429C>T
ENST00000262795.5:c.3827C>T	ENSP00000489147.1:p.Pro1276Leu
ENST00000414786.6:n.4015C>T
ENST00000445220.5:c.3809C>T	ENSP00000489407.1:p.Pro1270Leu