Canonical Allele Identifier: CA031723

Gene: TSC1

Linked Data

• dbSNP Id: rs746535706
• ExAC: 9:135779042 G / T
• gnomAD v2: 9-135779042-G-T
• gnomAD v4: 9-132903655-G-T
• MyVariant Identifiers: chr9:g.135779042G>T (hg19) ; chr9:g.132903655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903655G>T , CM000671.2:g.132903655G>T	GRCh38
NC_000009.11:g.135779042G>T , CM000671.1:g.135779042G>T	GRCh37
NC_000009.10:g.134768863G>T	NCBI36
NG_012386.1:g.45979C>A , LRG_486:g.45979C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2201C>A	ENSP00000496126.2:p.Ala734Asp
ENST00000490179.4:c.2204C>A	ENSP00000495533.2:p.Ala735Asp
ENST00000642261.2:c.2204C>A	ENSP00000494743.2:p.Ala735Asp
ENST00000643275.2:c.*144C>A	ENSP00000495598.2:n.*144C>A
ENST00000643362.2:c.1817C>A	ENSP00000496398.2:p.Ala606Asp
ENST00000643625.2:c.2041+756C>A	ENSP00000495546.2:n.2041+756C>A
ENST00000643691.2:c.1841C>A	ENSP00000494916.2:p.Ala614Asp
ENST00000644184.2:c.2204C>A	ENSP00000495428.2:p.Ala735Asp
ENST00000645129.2:c.2048C>A	ENSP00000493639.2:p.Ala683Asp
ENST00000646440.2:c.2204C>A	ENSP00000495830.2:p.Ala735Asp
ENST00000298552.9:c.2204C>A MANE Select	ENSP00000298552.3:p.Ala735Asp
ENST00000642261.1:c.268C>A
ENST00000642617.1:c.2201C>A	ENSP00000493773.1:p.Ala734Asp
ENST00000642627.1:c.2186C>A	ENSP00000496772.1:p.Ala729Asp
ENST00000642811.1:c.*1974C>A	ENSP00000495554.1:n.*1974C>A
ENST00000643072.1:c.2051C>A	ENSP00000496691.1:p.Ala684Asp
ENST00000643275.1:c.678C>A	ENSP00000495598.1:n.678C>A
ENST00000643583.1:c.2189C>A	ENSP00000494685.1:p.Ala730Asp
ENST00000643625.1:c.85+756C>A	ENSP00000495546.1:n.85+756C>A
ENST00000643875.1:c.2204C>A	ENSP00000495158.1:p.Ala735Asp
ENST00000644097.1:c.2201C>A	ENSP00000494682.1:p.Ala734Asp
ENST00000644184.1:c.941C>A	ENSP00000495428.1:p.Ala314Asp
ENST00000644255.1:c.*1971C>A	ENSP00000493608.1:n.*1971C>A
ENST00000644319.1:n.2579C>A
ENST00000644882.1:n.1159C>A
ENST00000645901.1:n.3055C>A
ENST00000646391.1:c.*1974C>A	ENSP00000494104.1:n.*1974C>A
ENST00000646625.1:c.2204C>A	ENSP00000496263.1:p.Ala735Asp
ENST00000647262.1:n.1169C>A
ENST00000647279.1:c.*1443C>A	ENSP00000494502.1:n.*1443C>A
ENST00000647506.1:n.3080C>A
ENST00000647534.1:n.1268C>A
ENST00000298552.7:c.2204C>A	ENSP00000298552.3:p.Ala735Asp
ENST00000440111.6:c.2204C>A	ENSP00000394524.2:p.Ala735Asp
ENST00000545250.5:c.2051C>A	ENSP00000444017.1:p.Ala684Asp
NM_000368.4:c.2204C>A , LRG_486t1:c.2204C>A	NP_000359.1:p.Ala735Asp
NM_001162426.1:c.2201C>A	NP_001155898.1:p.Ala734Asp
NM_001162427.1:c.2051C>A	NP_001155899.1:p.Ala684Asp
XM_005272211.1:c.2204C>A	XP_005272268.1:p.Ala735Asp
XM_006717271.1:c.2204C>A	XP_006717334.1:p.Ala735Asp
XM_011518979.1:c.2204C>A	XP_011517281.1:p.Ala735Asp
NM_001362177.1:c.1841C>A	NP_001349106.1:p.Ala614Asp
XM_011518979.2:c.2204C>A	XP_011517281.1:p.Ala735Asp
XM_017015096.1:c.2204C>A	XP_016870585.1:p.Ala735Asp
XM_017015097.1:c.2204C>A	XP_016870586.1:p.Ala735Asp
XM_017015098.1:c.2201C>A	XP_016870587.1:p.Ala734Asp
XM_017015100.1:c.1841C>A	XP_016870589.1:p.Ala614Asp
XM_017015101.1:c.1838C>A	XP_016870590.1:p.Ala613Asp
NM_000368.5:c.2204C>A MANE Select	NP_000359.1:p.Ala735Asp
NM_001162426.2:c.2201C>A	NP_001155898.1:p.Ala734Asp
NM_001162427.2:c.2051C>A	NP_001155899.1:p.Ala684Asp
NM_001362177.2:c.1841C>A	NP_001349106.1:p.Ala614Asp