Canonical Allele Identifier: CA467594446

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776131G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900744G>A , CM000671.2:g.132900744G>A	GRCh38
NC_000009.11:g.135776131G>A , CM000671.1:g.135776131G>A	GRCh37
NC_000009.10:g.134765952G>A	NCBI36
NG_012386.1:g.48890C>T , LRG_486:g.48890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2593C>T	ENSP00000496126.2:p.Leu865=
ENST00000490179.4:c.2596C>T	ENSP00000495533.2:p.Leu866=
ENST00000642261.2:c.*375C>T	ENSP00000494743.2:n.*375C>T
ENST00000643275.2:c.*536C>T	ENSP00000495598.2:n.*536C>T
ENST00000643362.2:c.2209C>T	ENSP00000496398.2:p.Leu737=
ENST00000643625.2:c.*338C>T	ENSP00000495546.2:n.*338C>T
ENST00000643691.2:c.2233C>T	ENSP00000494916.2:p.Leu745=
ENST00000644184.2:c.2554C>T	ENSP00000495428.2:p.Leu852=
ENST00000645129.2:c.2440C>T	ENSP00000493639.2:p.Leu814=
ENST00000646440.2:c.2596C>T	ENSP00000495830.2:p.Leu866=
ENST00000298552.9:c.2596C>T MANE Select	ENSP00000298552.3:p.Leu866=
ENST00000642261.1:c.656C>T
ENST00000642617.1:c.2593C>T	ENSP00000493773.1:p.Leu865=
ENST00000642627.1:c.2578C>T	ENSP00000496772.1:p.Leu860=
ENST00000642811.1:c.*2366C>T	ENSP00000495554.1:n.*2366C>T
ENST00000643072.1:c.2443C>T	ENSP00000496691.1:p.Leu815=
ENST00000643275.1:c.1070C>T	ENSP00000495598.1:n.1070C>T
ENST00000643583.1:c.2581C>T	ENSP00000494685.1:p.Leu861=
ENST00000643625.1:c.473C>T	ENSP00000495546.1:n.473C>T
ENST00000643875.1:c.2596C>T	ENSP00000495158.1:p.Leu866=
ENST00000644097.1:c.2593C>T	ENSP00000494682.1:p.Leu865=
ENST00000644184.1:c.1291C>T	ENSP00000495428.1:p.Leu431=
ENST00000644255.1:c.*2363C>T	ENSP00000493608.1:n.*2363C>T
ENST00000644319.1:n.2971C>T
ENST00000644786.1:n.255C>T
ENST00000644882.1:n.1509C>T
ENST00000645901.1:n.3447C>T
ENST00000646391.1:c.*2366C>T	ENSP00000494104.1:n.*2366C>T
ENST00000646625.1:c.2596C>T	ENSP00000496263.1:p.Leu866=
ENST00000647262.1:n.1561C>T
ENST00000647279.1:c.*1835C>T	ENSP00000494502.1:n.*1835C>T
ENST00000647506.1:n.3472C>T
ENST00000647534.1:n.1660C>T
ENST00000298552.7:c.2596C>T	ENSP00000298552.3:p.Leu866=
ENST00000440111.6:c.2596C>T	ENSP00000394524.2:p.Leu866=
ENST00000545250.5:c.2443C>T	ENSP00000444017.1:p.Leu815=
NM_000368.4:c.2596C>T , LRG_486t1:c.2596C>T	NP_000359.1:p.Leu866=
NM_001162426.1:c.2593C>T	NP_001155898.1:p.Leu865=
NM_001162427.1:c.2443C>T	NP_001155899.1:p.Leu815=
XM_005272211.1:c.2596C>T	XP_005272268.1:p.Leu866=
XM_006717271.1:c.2596C>T	XP_006717334.1:p.Leu866=
XM_011518979.1:c.2596C>T	XP_011517281.1:p.Leu866=
NM_001362177.1:c.2233C>T	NP_001349106.1:p.Leu745=
XM_011518979.2:c.2596C>T	XP_011517281.1:p.Leu866=
XM_017015096.1:c.2596C>T	XP_016870585.1:p.Leu866=
XM_017015097.1:c.2596C>T	XP_016870586.1:p.Leu866=
XM_017015098.1:c.2593C>T	XP_016870587.1:p.Leu865=
XM_017015100.1:c.2233C>T	XP_016870589.1:p.Leu745=
XM_017015101.1:c.2230C>T	XP_016870590.1:p.Leu744=
NM_000368.5:c.2596C>T MANE Select	NP_000359.1:p.Leu866=
NM_001162426.2:c.2593C>T	NP_001155898.1:p.Leu865=
NM_001162427.2:c.2443C>T	NP_001155899.1:p.Leu815=
NM_001362177.2:c.2233C>T	NP_001349106.1:p.Leu745=