Canonical Allele Identifier: CA515260904

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1699606
• ClinVar RCV Id: RCV002273463
• dbSNP Id: rs2146830640
• MyVariant Identifiers: chr22:g.51159434T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721006T>C , CM000684.2:g.50721006T>C	GRCh38
NC_000022.10:g.51159434T>C , CM000684.1:g.51159434T>C	GRCh37
NC_000022.9:g.49506300T>C	NCBI36
NG_008607.2:g.51652T>C
NG_070230.1:g.56790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2774T>C	ENSP00000489147.2:p.Leu925Pro
ENST00000414786.7:n.3358T>C
ENST00000445220.7:c.1826T>C	ENSP00000489407.2:p.Leu609Pro
ENST00000664402.2:c.1316T>C	ENSP00000499475.1:p.Leu439Pro
ENST00000673971.2:c.*1772T>C	ENSP00000501192.1:n.*1772T>C
ENST00000445220.6:c.1826T>C	ENSP00000489407.2:p.Leu609Pro
ENST00000262795.6:c.2774T>C	ENSP00000489147.2:p.Leu925Pro
ENST00000664402.1:c.1316T>C	ENSP00000499475.1:p.Leu439Pro
ENST00000673971.1:c.*1772T>C	ENSP00000501192.1:n.*1772T>C
ENST00000262795.5:c.3170T>C	ENSP00000489147.1:p.Leu1057Pro
ENST00000414786.6:n.3358T>C
ENST00000445220.5:c.3152T>C	ENSP00000489407.1:p.Leu1051Pro