Canonical Allele Identifier: CA375360066

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135778158A>C (hg19) ; chr9:g.132902771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902771A>C , CM000671.2:g.132902771A>C	GRCh38
NC_000009.11:g.135778158A>C , CM000671.1:g.135778158A>C	GRCh37
NC_000009.10:g.134767979A>C	NCBI36
NG_012386.1:g.46863T>G , LRG_486:g.46863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2222T>G	ENSP00000496126.2:p.Leu741Ter
ENST00000490179.4:c.2225T>G	ENSP00000495533.2:p.Leu742Ter
ENST00000642261.2:c.*4T>G	ENSP00000494743.2:n.*4T>G
ENST00000643275.2:c.*165T>G	ENSP00000495598.2:n.*165T>G
ENST00000643362.2:c.1838T>G	ENSP00000496398.2:p.Leu613Ter
ENST00000643625.2:c.2058T>G	ENSP00000495546.2:p.Val686=
ENST00000643691.2:c.1862T>G	ENSP00000494916.2:p.Leu621Ter
ENST00000644184.2:c.2225T>G	ENSP00000495428.2:p.Leu742Ter
ENST00000645129.2:c.2069T>G	ENSP00000493639.2:p.Leu690Ter
ENST00000646440.2:c.2225T>G	ENSP00000495830.2:p.Leu742Ter
ENST00000298552.9:c.2225T>G MANE Select	ENSP00000298552.3:p.Leu742Ter
ENST00000642261.1:c.285T>G
ENST00000642617.1:c.2222T>G	ENSP00000493773.1:p.Leu741Ter
ENST00000642627.1:c.2207T>G	ENSP00000496772.1:p.Leu736Ter
ENST00000642811.1:c.*1995T>G	ENSP00000495554.1:n.*1995T>G
ENST00000643072.1:c.2072T>G	ENSP00000496691.1:p.Leu691Ter
ENST00000643275.1:c.699T>G	ENSP00000495598.1:n.699T>G
ENST00000643583.1:c.2210T>G	ENSP00000494685.1:p.Leu737Ter
ENST00000643625.1:c.102T>G	ENSP00000495546.1:p.Val34=
ENST00000643875.1:c.2225T>G	ENSP00000495158.1:p.Leu742Ter
ENST00000644097.1:c.2222T>G	ENSP00000494682.1:p.Leu741Ter
ENST00000644184.1:c.962T>G	ENSP00000495428.1:p.Leu321Ter
ENST00000644255.1:c.*1992T>G	ENSP00000493608.1:n.*1992T>G
ENST00000644319.1:n.2600T>G
ENST00000644882.1:n.1180T>G
ENST00000645901.1:n.3076T>G
ENST00000646391.1:c.*1995T>G	ENSP00000494104.1:n.*1995T>G
ENST00000646625.1:c.2225T>G	ENSP00000496263.1:p.Leu742Ter
ENST00000647262.1:n.1190T>G
ENST00000647279.1:c.*1464T>G	ENSP00000494502.1:n.*1464T>G
ENST00000647506.1:n.3101T>G
ENST00000647534.1:n.1289T>G
ENST00000298552.7:c.2225T>G	ENSP00000298552.3:p.Leu742Ter
ENST00000440111.6:c.2225T>G	ENSP00000394524.2:p.Leu742Ter
ENST00000545250.5:c.2072T>G	ENSP00000444017.1:p.Leu691Ter
NM_000368.4:c.2225T>G , LRG_486t1:c.2225T>G	NP_000359.1:p.Leu742Ter
NM_001162426.1:c.2222T>G	NP_001155898.1:p.Leu741Ter
NM_001162427.1:c.2072T>G	NP_001155899.1:p.Leu691Ter
XM_005272211.1:c.2225T>G	XP_005272268.1:p.Leu742Ter
XM_006717271.1:c.2225T>G	XP_006717334.1:p.Leu742Ter
XM_011518979.1:c.2225T>G	XP_011517281.1:p.Leu742Ter
NM_001362177.1:c.1862T>G	NP_001349106.1:p.Leu621Ter
XM_011518979.2:c.2225T>G	XP_011517281.1:p.Leu742Ter
XM_017015096.1:c.2225T>G	XP_016870585.1:p.Leu742Ter
XM_017015097.1:c.2225T>G	XP_016870586.1:p.Leu742Ter
XM_017015098.1:c.2222T>G	XP_016870587.1:p.Leu741Ter
XM_017015100.1:c.1862T>G	XP_016870589.1:p.Leu621Ter
XM_017015101.1:c.1859T>G	XP_016870590.1:p.Leu620Ter
NM_000368.5:c.2225T>G MANE Select	NP_000359.1:p.Leu742Ter
NM_001162426.2:c.2222T>G	NP_001155898.1:p.Leu741Ter
NM_001162427.2:c.2072T>G	NP_001155899.1:p.Leu691Ter
NM_001362177.2:c.1862T>G	NP_001349106.1:p.Leu621Ter