Canonical Allele Identifier: CA375370314

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776212C>A (hg19) ; chr9:g.132900825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900825C>A , CM000671.2:g.132900825C>A	GRCh38
NC_000009.11:g.135776212C>A , CM000671.1:g.135776212C>A	GRCh37
NC_000009.10:g.134766033C>A	NCBI36
NG_012386.1:g.48809G>T , LRG_486:g.48809G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2512G>T	ENSP00000496126.2:p.Glu838Ter
ENST00000490179.4:c.2515G>T	ENSP00000495533.2:p.Glu839Ter
ENST00000642261.2:c.*294G>T	ENSP00000494743.2:n.*294G>T
ENST00000643275.2:c.*455G>T	ENSP00000495598.2:n.*455G>T
ENST00000643362.2:c.2128G>T	ENSP00000496398.2:p.Glu710Ter
ENST00000643625.2:c.*257G>T	ENSP00000495546.2:n.*257G>T
ENST00000643691.2:c.2152G>T	ENSP00000494916.2:p.Glu718Ter
ENST00000644184.2:c.2473G>T	ENSP00000495428.2:p.Glu825Ter
ENST00000645129.2:c.2359G>T	ENSP00000493639.2:p.Glu787Ter
ENST00000646440.2:c.2515G>T	ENSP00000495830.2:p.Glu839Ter
ENST00000298552.9:c.2515G>T MANE Select	ENSP00000298552.3:p.Glu839Ter
ENST00000642261.1:c.575G>T
ENST00000642617.1:c.2512G>T	ENSP00000493773.1:p.Glu838Ter
ENST00000642627.1:c.2497G>T	ENSP00000496772.1:p.Glu833Ter
ENST00000642811.1:c.*2285G>T	ENSP00000495554.1:n.*2285G>T
ENST00000643072.1:c.2362G>T	ENSP00000496691.1:p.Glu788Ter
ENST00000643275.1:c.989G>T	ENSP00000495598.1:n.989G>T
ENST00000643583.1:c.2500G>T	ENSP00000494685.1:p.Glu834Ter
ENST00000643625.1:c.392G>T	ENSP00000495546.1:n.392G>T
ENST00000643875.1:c.2515G>T	ENSP00000495158.1:p.Glu839Ter
ENST00000644097.1:c.2512G>T	ENSP00000494682.1:p.Glu838Ter
ENST00000644184.1:c.1210G>T	ENSP00000495428.1:p.Glu404Ter
ENST00000644255.1:c.*2282G>T	ENSP00000493608.1:n.*2282G>T
ENST00000644319.1:n.2890G>T
ENST00000644786.1:n.174G>T
ENST00000644882.1:n.1428G>T
ENST00000645901.1:n.3366G>T
ENST00000646391.1:c.*2285G>T	ENSP00000494104.1:n.*2285G>T
ENST00000646625.1:c.2515G>T	ENSP00000496263.1:p.Glu839Ter
ENST00000647262.1:n.1480G>T
ENST00000647279.1:c.*1754G>T	ENSP00000494502.1:n.*1754G>T
ENST00000647506.1:n.3391G>T
ENST00000647534.1:n.1579G>T
ENST00000298552.7:c.2515G>T	ENSP00000298552.3:p.Glu839Ter
ENST00000440111.6:c.2515G>T	ENSP00000394524.2:p.Glu839Ter
ENST00000545250.5:c.2362G>T	ENSP00000444017.1:p.Glu788Ter
NM_000368.4:c.2515G>T , LRG_486t1:c.2515G>T	NP_000359.1:p.Glu839Ter
NM_001162426.1:c.2512G>T	NP_001155898.1:p.Glu838Ter
NM_001162427.1:c.2362G>T	NP_001155899.1:p.Glu788Ter
XM_005272211.1:c.2515G>T	XP_005272268.1:p.Glu839Ter
XM_006717271.1:c.2515G>T	XP_006717334.1:p.Glu839Ter
XM_011518979.1:c.2515G>T	XP_011517281.1:p.Glu839Ter
NM_001362177.1:c.2152G>T	NP_001349106.1:p.Glu718Ter
XM_011518979.2:c.2515G>T	XP_011517281.1:p.Glu839Ter
XM_017015096.1:c.2515G>T	XP_016870585.1:p.Glu839Ter
XM_017015097.1:c.2515G>T	XP_016870586.1:p.Glu839Ter
XM_017015098.1:c.2512G>T	XP_016870587.1:p.Glu838Ter
XM_017015100.1:c.2152G>T	XP_016870589.1:p.Glu718Ter
XM_017015101.1:c.2149G>T	XP_016870590.1:p.Glu717Ter
NM_000368.5:c.2515G>T MANE Select	NP_000359.1:p.Glu839Ter
NM_001162426.2:c.2512G>T	NP_001155898.1:p.Glu838Ter
NM_001162427.2:c.2362G>T	NP_001155899.1:p.Glu788Ter
NM_001362177.2:c.2152G>T	NP_001349106.1:p.Glu718Ter