Canonical Allele Identifier: CA515261526

Gene: SHANK3

Linked Data

• dbSNP Id: rs769454362
• gnomAD v3: 22-50721234-C-T
• gnomAD v4: 22-50721234-C-T
• MyVariant Identifiers: chr22:g.51159662C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721234C>T , CM000684.2:g.50721234C>T	GRCh38
NC_000022.10:g.51159662C>T , CM000684.1:g.51159662C>T	GRCh37
NC_000022.9:g.49506528C>T	NCBI36
NG_008607.2:g.51880C>T
NG_070230.1:g.57018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3002C>T	ENSP00000489147.2:p.Pro1001Leu
ENST00000414786.7:n.3586C>T
ENST00000445220.7:c.2054C>T	ENSP00000489407.2:p.Pro685Leu
ENST00000664402.2:c.1544C>T	ENSP00000499475.1:p.Pro515Leu
ENST00000673971.2:c.*2000C>T	ENSP00000501192.1:n.*2000C>T
ENST00000445220.6:c.2054C>T	ENSP00000489407.2:p.Pro685Leu
ENST00000262795.6:c.3002C>T	ENSP00000489147.2:p.Pro1001Leu
ENST00000664402.1:c.1544C>T	ENSP00000499475.1:p.Pro515Leu
ENST00000673971.1:c.*2000C>T	ENSP00000501192.1:n.*2000C>T
ENST00000262795.5:c.3398C>T	ENSP00000489147.1:p.Pro1133Leu
ENST00000414786.6:n.3586C>T
ENST00000445220.5:c.3380C>T	ENSP00000489407.1:p.Pro1127Leu