Canonical Allele Identifier: CA375370244

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776196T>A (hg19) ; chr9:g.132900809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900809T>A , CM000671.2:g.132900809T>A	GRCh38
NC_000009.11:g.135776196T>A , CM000671.1:g.135776196T>A	GRCh37
NC_000009.10:g.134766017T>A	NCBI36
NG_012386.1:g.48825A>T , LRG_486:g.48825A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2528A>T	ENSP00000496126.2:p.Gln843Leu
ENST00000490179.4:c.2531A>T	ENSP00000495533.2:p.Gln844Leu
ENST00000642261.2:c.*310A>T	ENSP00000494743.2:n.*310A>T
ENST00000643275.2:c.*471A>T	ENSP00000495598.2:n.*471A>T
ENST00000643362.2:c.2144A>T	ENSP00000496398.2:p.Gln715Leu
ENST00000643625.2:c.*273A>T	ENSP00000495546.2:n.*273A>T
ENST00000643691.2:c.2168A>T	ENSP00000494916.2:p.Gln723Leu
ENST00000644184.2:c.2489A>T	ENSP00000495428.2:p.Gln830Leu
ENST00000645129.2:c.2375A>T	ENSP00000493639.2:p.Gln792Leu
ENST00000646440.2:c.2531A>T	ENSP00000495830.2:p.Gln844Leu
ENST00000298552.9:c.2531A>T MANE Select	ENSP00000298552.3:p.Gln844Leu
ENST00000642261.1:c.591A>T
ENST00000642617.1:c.2528A>T	ENSP00000493773.1:p.Gln843Leu
ENST00000642627.1:c.2513A>T	ENSP00000496772.1:p.Gln838Leu
ENST00000642811.1:c.*2301A>T	ENSP00000495554.1:n.*2301A>T
ENST00000643072.1:c.2378A>T	ENSP00000496691.1:p.Gln793Leu
ENST00000643275.1:c.1005A>T	ENSP00000495598.1:n.1005A>T
ENST00000643583.1:c.2516A>T	ENSP00000494685.1:p.Gln839Leu
ENST00000643625.1:c.408A>T	ENSP00000495546.1:n.408A>T
ENST00000643875.1:c.2531A>T	ENSP00000495158.1:p.Gln844Leu
ENST00000644097.1:c.2528A>T	ENSP00000494682.1:p.Gln843Leu
ENST00000644184.1:c.1226A>T	ENSP00000495428.1:p.Gln409Leu
ENST00000644255.1:c.*2298A>T	ENSP00000493608.1:n.*2298A>T
ENST00000644319.1:n.2906A>T
ENST00000644786.1:n.190A>T
ENST00000644882.1:n.1444A>T
ENST00000645901.1:n.3382A>T
ENST00000646391.1:c.*2301A>T	ENSP00000494104.1:n.*2301A>T
ENST00000646625.1:c.2531A>T	ENSP00000496263.1:p.Gln844Leu
ENST00000647262.1:n.1496A>T
ENST00000647279.1:c.*1770A>T	ENSP00000494502.1:n.*1770A>T
ENST00000647506.1:n.3407A>T
ENST00000647534.1:n.1595A>T
ENST00000298552.7:c.2531A>T	ENSP00000298552.3:p.Gln844Leu
ENST00000440111.6:c.2531A>T	ENSP00000394524.2:p.Gln844Leu
ENST00000545250.5:c.2378A>T	ENSP00000444017.1:p.Gln793Leu
NM_000368.4:c.2531A>T , LRG_486t1:c.2531A>T	NP_000359.1:p.Gln844Leu
NM_001162426.1:c.2528A>T	NP_001155898.1:p.Gln843Leu
NM_001162427.1:c.2378A>T	NP_001155899.1:p.Gln793Leu
XM_005272211.1:c.2531A>T	XP_005272268.1:p.Gln844Leu
XM_006717271.1:c.2531A>T	XP_006717334.1:p.Gln844Leu
XM_011518979.1:c.2531A>T	XP_011517281.1:p.Gln844Leu
NM_001362177.1:c.2168A>T	NP_001349106.1:p.Gln723Leu
XM_011518979.2:c.2531A>T	XP_011517281.1:p.Gln844Leu
XM_017015096.1:c.2531A>T	XP_016870585.1:p.Gln844Leu
XM_017015097.1:c.2531A>T	XP_016870586.1:p.Gln844Leu
XM_017015098.1:c.2528A>T	XP_016870587.1:p.Gln843Leu
XM_017015100.1:c.2168A>T	XP_016870589.1:p.Gln723Leu
XM_017015101.1:c.2165A>T	XP_016870590.1:p.Gln722Leu
NM_000368.5:c.2531A>T MANE Select	NP_000359.1:p.Gln844Leu
NM_001162426.2:c.2528A>T	NP_001155898.1:p.Gln843Leu
NM_001162427.2:c.2378A>T	NP_001155899.1:p.Gln793Leu
NM_001362177.2:c.2168A>T	NP_001349106.1:p.Gln723Leu