Canonical Allele Identifier: CA467594450

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1999152
• ClinVar RCV Id: RCV002797056 ; RCV003375698
• MyVariant Identifiers: chr9:g.135776140A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900753A>G , CM000671.2:g.132900753A>G	GRCh38
NC_000009.11:g.135776140A>G , CM000671.1:g.135776140A>G	GRCh37
NC_000009.10:g.134765961A>G	NCBI36
NG_012386.1:g.48881T>C , LRG_486:g.48881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2584T>C	ENSP00000496126.2:p.Leu862=
ENST00000490179.4:c.2587T>C	ENSP00000495533.2:p.Leu863=
ENST00000642261.2:c.*366T>C	ENSP00000494743.2:n.*366T>C
ENST00000643275.2:c.*527T>C	ENSP00000495598.2:n.*527T>C
ENST00000643362.2:c.2200T>C	ENSP00000496398.2:p.Leu734=
ENST00000643625.2:c.*329T>C	ENSP00000495546.2:n.*329T>C
ENST00000643691.2:c.2224T>C	ENSP00000494916.2:p.Leu742=
ENST00000644184.2:c.2545T>C	ENSP00000495428.2:p.Leu849=
ENST00000645129.2:c.2431T>C	ENSP00000493639.2:p.Leu811=
ENST00000646440.2:c.2587T>C	ENSP00000495830.2:p.Leu863=
ENST00000298552.9:c.2587T>C MANE Select	ENSP00000298552.3:p.Leu863=
ENST00000642261.1:c.647T>C
ENST00000642617.1:c.2584T>C	ENSP00000493773.1:p.Leu862=
ENST00000642627.1:c.2569T>C	ENSP00000496772.1:p.Leu857=
ENST00000642811.1:c.*2357T>C	ENSP00000495554.1:n.*2357T>C
ENST00000643072.1:c.2434T>C	ENSP00000496691.1:p.Leu812=
ENST00000643275.1:c.1061T>C	ENSP00000495598.1:n.1061T>C
ENST00000643583.1:c.2572T>C	ENSP00000494685.1:p.Leu858=
ENST00000643625.1:c.464T>C	ENSP00000495546.1:n.464T>C
ENST00000643875.1:c.2587T>C	ENSP00000495158.1:p.Leu863=
ENST00000644097.1:c.2584T>C	ENSP00000494682.1:p.Leu862=
ENST00000644184.1:c.1282T>C	ENSP00000495428.1:p.Leu428=
ENST00000644255.1:c.*2354T>C	ENSP00000493608.1:n.*2354T>C
ENST00000644319.1:n.2962T>C
ENST00000644786.1:n.246T>C
ENST00000644882.1:n.1500T>C
ENST00000645901.1:n.3438T>C
ENST00000646391.1:c.*2357T>C	ENSP00000494104.1:n.*2357T>C
ENST00000646625.1:c.2587T>C	ENSP00000496263.1:p.Leu863=
ENST00000647262.1:n.1552T>C
ENST00000647279.1:c.*1826T>C	ENSP00000494502.1:n.*1826T>C
ENST00000647506.1:n.3463T>C
ENST00000647534.1:n.1651T>C
ENST00000298552.7:c.2587T>C	ENSP00000298552.3:p.Leu863=
ENST00000440111.6:c.2587T>C	ENSP00000394524.2:p.Leu863=
ENST00000545250.5:c.2434T>C	ENSP00000444017.1:p.Leu812=
NM_000368.4:c.2587T>C , LRG_486t1:c.2587T>C	NP_000359.1:p.Leu863=
NM_001162426.1:c.2584T>C	NP_001155898.1:p.Leu862=
NM_001162427.1:c.2434T>C	NP_001155899.1:p.Leu812=
XM_005272211.1:c.2587T>C	XP_005272268.1:p.Leu863=
XM_006717271.1:c.2587T>C	XP_006717334.1:p.Leu863=
XM_011518979.1:c.2587T>C	XP_011517281.1:p.Leu863=
NM_001362177.1:c.2224T>C	NP_001349106.1:p.Leu742=
XM_011518979.2:c.2587T>C	XP_011517281.1:p.Leu863=
XM_017015096.1:c.2587T>C	XP_016870585.1:p.Leu863=
XM_017015097.1:c.2587T>C	XP_016870586.1:p.Leu863=
XM_017015098.1:c.2584T>C	XP_016870587.1:p.Leu862=
XM_017015100.1:c.2224T>C	XP_016870589.1:p.Leu742=
XM_017015101.1:c.2221T>C	XP_016870590.1:p.Leu741=
NM_000368.5:c.2587T>C MANE Select	NP_000359.1:p.Leu863=
NM_001162426.2:c.2584T>C	NP_001155898.1:p.Leu862=
NM_001162427.2:c.2434T>C	NP_001155899.1:p.Leu812=
NM_001362177.2:c.2224T>C	NP_001349106.1:p.Leu742=