Canonical Allele Identifier: CA375370176

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776183C>G (hg19) ; chr9:g.132900796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900796C>G , CM000671.2:g.132900796C>G	GRCh38
NC_000009.11:g.135776183C>G , CM000671.1:g.135776183C>G	GRCh37
NC_000009.10:g.134766004C>G	NCBI36
NG_012386.1:g.48838G>C , LRG_486:g.48838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2541G>C	ENSP00000496126.2:p.Leu847Phe
ENST00000490179.4:c.2544G>C	ENSP00000495533.2:p.Leu848Phe
ENST00000642261.2:c.*323G>C	ENSP00000494743.2:n.*323G>C
ENST00000643275.2:c.*484G>C	ENSP00000495598.2:n.*484G>C
ENST00000643362.2:c.2157G>C	ENSP00000496398.2:p.Leu719Phe
ENST00000643625.2:c.*286G>C	ENSP00000495546.2:n.*286G>C
ENST00000643691.2:c.2181G>C	ENSP00000494916.2:p.Leu727Phe
ENST00000644184.2:c.2502G>C	ENSP00000495428.2:p.Leu834Phe
ENST00000645129.2:c.2388G>C	ENSP00000493639.2:p.Leu796Phe
ENST00000646440.2:c.2544G>C	ENSP00000495830.2:p.Leu848Phe
ENST00000298552.9:c.2544G>C MANE Select	ENSP00000298552.3:p.Leu848Phe
ENST00000642261.1:c.604G>C
ENST00000642617.1:c.2541G>C	ENSP00000493773.1:p.Leu847Phe
ENST00000642627.1:c.2526G>C	ENSP00000496772.1:p.Leu842Phe
ENST00000642811.1:c.*2314G>C	ENSP00000495554.1:n.*2314G>C
ENST00000643072.1:c.2391G>C	ENSP00000496691.1:p.Leu797Phe
ENST00000643275.1:c.1018G>C	ENSP00000495598.1:n.1018G>C
ENST00000643583.1:c.2529G>C	ENSP00000494685.1:p.Leu843Phe
ENST00000643625.1:c.421G>C	ENSP00000495546.1:n.421G>C
ENST00000643875.1:c.2544G>C	ENSP00000495158.1:p.Leu848Phe
ENST00000644097.1:c.2541G>C	ENSP00000494682.1:p.Leu847Phe
ENST00000644184.1:c.1239G>C	ENSP00000495428.1:p.Leu413Phe
ENST00000644255.1:c.*2311G>C	ENSP00000493608.1:n.*2311G>C
ENST00000644319.1:n.2919G>C
ENST00000644786.1:n.203G>C
ENST00000644882.1:n.1457G>C
ENST00000645901.1:n.3395G>C
ENST00000646391.1:c.*2314G>C	ENSP00000494104.1:n.*2314G>C
ENST00000646625.1:c.2544G>C	ENSP00000496263.1:p.Leu848Phe
ENST00000647262.1:n.1509G>C
ENST00000647279.1:c.*1783G>C	ENSP00000494502.1:n.*1783G>C
ENST00000647506.1:n.3420G>C
ENST00000647534.1:n.1608G>C
ENST00000298552.7:c.2544G>C	ENSP00000298552.3:p.Leu848Phe
ENST00000440111.6:c.2544G>C	ENSP00000394524.2:p.Leu848Phe
ENST00000545250.5:c.2391G>C	ENSP00000444017.1:p.Leu797Phe
NM_000368.4:c.2544G>C , LRG_486t1:c.2544G>C	NP_000359.1:p.Leu848Phe
NM_001162426.1:c.2541G>C	NP_001155898.1:p.Leu847Phe
NM_001162427.1:c.2391G>C	NP_001155899.1:p.Leu797Phe
XM_005272211.1:c.2544G>C	XP_005272268.1:p.Leu848Phe
XM_006717271.1:c.2544G>C	XP_006717334.1:p.Leu848Phe
XM_011518979.1:c.2544G>C	XP_011517281.1:p.Leu848Phe
NM_001362177.1:c.2181G>C	NP_001349106.1:p.Leu727Phe
XM_011518979.2:c.2544G>C	XP_011517281.1:p.Leu848Phe
XM_017015096.1:c.2544G>C	XP_016870585.1:p.Leu848Phe
XM_017015097.1:c.2544G>C	XP_016870586.1:p.Leu848Phe
XM_017015098.1:c.2541G>C	XP_016870587.1:p.Leu847Phe
XM_017015100.1:c.2181G>C	XP_016870589.1:p.Leu727Phe
XM_017015101.1:c.2178G>C	XP_016870590.1:p.Leu726Phe
NM_000368.5:c.2544G>C MANE Select	NP_000359.1:p.Leu848Phe
NM_001162426.2:c.2541G>C	NP_001155898.1:p.Leu847Phe
NM_001162427.2:c.2391G>C	NP_001155899.1:p.Leu797Phe
NM_001362177.2:c.2181G>C	NP_001349106.1:p.Leu727Phe