Canonical Allele Identifier: CA375360758

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2447879
• ClinVar RCV Id: RCV003176673 ; RCV003505304
• dbSNP Id: rs1368576380
• gnomAD v4: 9-132903685-T-C
• MyVariant Identifiers: chr9:g.135779072T>C (hg19) ; chr9:g.132903685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903685T>C , CM000671.2:g.132903685T>C	GRCh38
NC_000009.11:g.135779072T>C , CM000671.1:g.135779072T>C	GRCh37
NC_000009.10:g.134768893T>C	NCBI36
NG_012386.1:g.45949A>G , LRG_486:g.45949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2171A>G	ENSP00000496126.2:p.Lys724Arg
ENST00000490179.4:c.2174A>G	ENSP00000495533.2:p.Lys725Arg
ENST00000642261.2:c.2174A>G	ENSP00000494743.2:p.Lys725Arg
ENST00000643275.2:c.*114A>G	ENSP00000495598.2:n.*114A>G
ENST00000643362.2:c.1787A>G	ENSP00000496398.2:p.Lys596Arg
ENST00000643625.2:c.2041+726A>G	ENSP00000495546.2:n.2041+726A>G
ENST00000643691.2:c.1811A>G	ENSP00000494916.2:p.Lys604Arg
ENST00000644184.2:c.2174A>G	ENSP00000495428.2:p.Lys725Arg
ENST00000645129.2:c.2018A>G	ENSP00000493639.2:p.Lys673Arg
ENST00000646440.2:c.2174A>G	ENSP00000495830.2:p.Lys725Arg
ENST00000298552.9:c.2174A>G MANE Select	ENSP00000298552.3:p.Lys725Arg
ENST00000642261.1:c.238A>G
ENST00000642617.1:c.2171A>G	ENSP00000493773.1:p.Lys724Arg
ENST00000642627.1:c.2156A>G	ENSP00000496772.1:p.Lys719Arg
ENST00000642811.1:c.*1944A>G	ENSP00000495554.1:n.*1944A>G
ENST00000643072.1:c.2021A>G	ENSP00000496691.1:p.Lys674Arg
ENST00000643275.1:c.648A>G	ENSP00000495598.1:n.648A>G
ENST00000643583.1:c.2159A>G	ENSP00000494685.1:p.Lys720Arg
ENST00000643625.1:c.85+726A>G	ENSP00000495546.1:n.85+726A>G
ENST00000643875.1:c.2174A>G	ENSP00000495158.1:p.Lys725Arg
ENST00000644097.1:c.2171A>G	ENSP00000494682.1:p.Lys724Arg
ENST00000644184.1:c.911A>G	ENSP00000495428.1:p.Lys304Arg
ENST00000644255.1:c.*1941A>G	ENSP00000493608.1:n.*1941A>G
ENST00000644319.1:n.2549A>G
ENST00000644882.1:n.1129A>G
ENST00000645901.1:n.3025A>G
ENST00000646391.1:c.*1944A>G	ENSP00000494104.1:n.*1944A>G
ENST00000646625.1:c.2174A>G	ENSP00000496263.1:p.Lys725Arg
ENST00000647262.1:n.1139A>G
ENST00000647279.1:c.*1413A>G	ENSP00000494502.1:n.*1413A>G
ENST00000647506.1:n.3050A>G
ENST00000647534.1:n.1238A>G
ENST00000298552.7:c.2174A>G	ENSP00000298552.3:p.Lys725Arg
ENST00000440111.6:c.2174A>G	ENSP00000394524.2:p.Lys725Arg
ENST00000545250.5:c.2021A>G	ENSP00000444017.1:p.Lys674Arg
NM_000368.4:c.2174A>G , LRG_486t1:c.2174A>G	NP_000359.1:p.Lys725Arg
NM_001162426.1:c.2171A>G	NP_001155898.1:p.Lys724Arg
NM_001162427.1:c.2021A>G	NP_001155899.1:p.Lys674Arg
XM_005272211.1:c.2174A>G	XP_005272268.1:p.Lys725Arg
XM_006717271.1:c.2174A>G	XP_006717334.1:p.Lys725Arg
XM_011518979.1:c.2174A>G	XP_011517281.1:p.Lys725Arg
NM_001362177.1:c.1811A>G	NP_001349106.1:p.Lys604Arg
XM_011518979.2:c.2174A>G	XP_011517281.1:p.Lys725Arg
XM_017015096.1:c.2174A>G	XP_016870585.1:p.Lys725Arg
XM_017015097.1:c.2174A>G	XP_016870586.1:p.Lys725Arg
XM_017015098.1:c.2171A>G	XP_016870587.1:p.Lys724Arg
XM_017015100.1:c.1811A>G	XP_016870589.1:p.Lys604Arg
XM_017015101.1:c.1808A>G	XP_016870590.1:p.Lys603Arg
NM_000368.5:c.2174A>G MANE Select	NP_000359.1:p.Lys725Arg
NM_001162426.2:c.2171A>G	NP_001155898.1:p.Lys724Arg
NM_001162427.2:c.2021A>G	NP_001155899.1:p.Lys674Arg
NM_001362177.2:c.1811A>G	NP_001349106.1:p.Lys604Arg