Canonical Allele Identifier: CA16612627

Gene: TSC1

Linked Data

• ClinVar Variation Id: 411232
• ClinVar RCV Id: RCV000476200
• dbSNP Id: rs1060503201
• MyVariant Identifiers: chr9:g.135778158A>G (hg19) ; chr9:g.132902771A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2222T>C	ENSP00000496126.2:p.Leu741Ser
ENST00000490179.4:c.2225T>C	ENSP00000495533.2:p.Leu742Ser
ENST00000642261.2:c.*4T>C	ENSP00000494743.2:n.*4T>C
ENST00000643275.2:c.*165T>C	ENSP00000495598.2:n.*165T>C
ENST00000643362.2:c.1838T>C	ENSP00000496398.2:p.Leu613Ser
ENST00000643625.2:c.2058T>C	ENSP00000495546.2:p.Val686=
ENST00000643691.2:c.1862T>C	ENSP00000494916.2:p.Leu621Ser
ENST00000644184.2:c.2225T>C	ENSP00000495428.2:p.Leu742Ser
ENST00000645129.2:c.2069T>C	ENSP00000493639.2:p.Leu690Ser
ENST00000646440.2:c.2225T>C	ENSP00000495830.2:p.Leu742Ser
ENST00000298552.9:c.2225T>C MANE Select	ENSP00000298552.3:p.Leu742Ser
ENST00000642261.1:c.285T>C
ENST00000642617.1:c.2222T>C	ENSP00000493773.1:p.Leu741Ser
ENST00000642627.1:c.2207T>C	ENSP00000496772.1:p.Leu736Ser
ENST00000642811.1:c.*1995T>C	ENSP00000495554.1:n.*1995T>C
ENST00000643072.1:c.2072T>C	ENSP00000496691.1:p.Leu691Ser
ENST00000643275.1:c.699T>C	ENSP00000495598.1:n.699T>C
ENST00000643583.1:c.2210T>C	ENSP00000494685.1:p.Leu737Ser
ENST00000643625.1:c.102T>C	ENSP00000495546.1:p.Val34=
ENST00000643875.1:c.2225T>C	ENSP00000495158.1:p.Leu742Ser
ENST00000644097.1:c.2222T>C	ENSP00000494682.1:p.Leu741Ser
ENST00000644184.1:c.962T>C	ENSP00000495428.1:p.Leu321Ser
ENST00000644255.1:c.*1992T>C	ENSP00000493608.1:n.*1992T>C
ENST00000644319.1:n.2600T>C
ENST00000644882.1:n.1180T>C
ENST00000645901.1:n.3076T>C
ENST00000646391.1:c.*1995T>C	ENSP00000494104.1:n.*1995T>C
ENST00000646625.1:c.2225T>C	ENSP00000496263.1:p.Leu742Ser
ENST00000647262.1:n.1190T>C
ENST00000647279.1:c.*1464T>C	ENSP00000494502.1:n.*1464T>C
ENST00000647506.1:n.3101T>C
ENST00000647534.1:n.1289T>C
ENST00000298552.7:c.2225T>C	ENSP00000298552.3:p.Leu742Ser
ENST00000440111.6:c.2225T>C	ENSP00000394524.2:p.Leu742Ser
ENST00000545250.5:c.2072T>C	ENSP00000444017.1:p.Leu691Ser
NM_000368.4:c.2225T>C , LRG_486t1:c.2225T>C	NP_000359.1:p.Leu742Ser
NM_001162426.1:c.2222T>C	NP_001155898.1:p.Leu741Ser
NM_001162427.1:c.2072T>C	NP_001155899.1:p.Leu691Ser
XM_005272211.1:c.2225T>C	XP_005272268.1:p.Leu742Ser
XM_006717271.1:c.2225T>C	XP_006717334.1:p.Leu742Ser
XM_011518979.1:c.2225T>C	XP_011517281.1:p.Leu742Ser
NM_001362177.1:c.1862T>C	NP_001349106.1:p.Leu621Ser
XM_011518979.2:c.2225T>C	XP_011517281.1:p.Leu742Ser
XM_017015096.1:c.2225T>C	XP_016870585.1:p.Leu742Ser
XM_017015097.1:c.2225T>C	XP_016870586.1:p.Leu742Ser
XM_017015098.1:c.2222T>C	XP_016870587.1:p.Leu741Ser
XM_017015100.1:c.1862T>C	XP_016870589.1:p.Leu621Ser
XM_017015101.1:c.1859T>C	XP_016870590.1:p.Leu620Ser
NM_000368.5:c.2225T>C MANE Select	NP_000359.1:p.Leu742Ser
NM_001162426.2:c.2222T>C	NP_001155898.1:p.Leu741Ser
NM_001162427.2:c.2072T>C	NP_001155899.1:p.Leu691Ser
NM_001362177.2:c.1862T>C	NP_001349106.1:p.Leu621Ser