Canonical Allele Identifier: CA515260991

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159467T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721039T>C , CM000684.2:g.50721039T>C	GRCh38
NC_000022.10:g.51159467T>C , CM000684.1:g.51159467T>C	GRCh37
NC_000022.9:g.49506333T>C	NCBI36
NG_008607.2:g.51685T>C
NG_070230.1:g.56823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2807T>C	ENSP00000489147.2:p.Leu936Pro
ENST00000414786.7:n.3391T>C
ENST00000445220.7:c.1859T>C	ENSP00000489407.2:p.Leu620Pro
ENST00000664402.2:c.1349T>C	ENSP00000499475.1:p.Leu450Pro
ENST00000673971.2:c.*1805T>C	ENSP00000501192.1:n.*1805T>C
ENST00000445220.6:c.1859T>C	ENSP00000489407.2:p.Leu620Pro
ENST00000262795.6:c.2807T>C	ENSP00000489147.2:p.Leu936Pro
ENST00000664402.1:c.1349T>C	ENSP00000499475.1:p.Leu450Pro
ENST00000673971.1:c.*1805T>C	ENSP00000501192.1:n.*1805T>C
ENST00000262795.5:c.3203T>C	ENSP00000489147.1:p.Leu1068Pro
ENST00000414786.6:n.3391T>C
ENST00000445220.5:c.3185T>C	ENSP00000489407.1:p.Leu1062Pro