Canonical Allele Identifier: CA008088

Gene: TSC1

Linked Data

• ClinVar Variation Id: 49091
• ClinVar RCV Id: RCV000042345 ; RCV000201189 ; RCV000255397 ; RCV000491872
• dbSNP Id: rs118203434
• gnomAD v4: 9-132921367-G-A
• COSMIC: COSM127002 ; COSM4891784
• MyVariant Identifiers: chr9:g.135796754G>A (hg19) ; chr9:g.132921367G>A (hg38)
• PubMed: PMID:10363127 ; PMID:10533066 ; PMID:15798777 ; PMID:17304050 ; PMID:22791573 ; PMID:27470532

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132921367G>A , CM000671.2:g.132921367G>A	GRCh38
NC_000009.11:g.135796754G>A , CM000671.1:g.135796754G>A	GRCh37
NC_000009.10:g.134786575G>A	NCBI36
NG_012386.1:g.28267C>T , LRG_486:g.28267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.733C>T	ENSP00000496126.2:p.Arg245Ter
ENST00000490179.4:c.733C>T	ENSP00000495533.2:p.Arg245Ter
ENST00000642261.2:c.733C>T	ENSP00000494743.2:p.Arg245Ter
ENST00000643275.2:c.733C>T	ENSP00000495598.2:p.Arg245Ter
ENST00000643362.2:c.580C>T	ENSP00000496398.2:p.Arg194Ter
ENST00000643625.2:c.733C>T	ENSP00000495546.2:p.Arg245Ter
ENST00000643691.2:c.370C>T	ENSP00000494916.2:p.Arg124Ter
ENST00000644184.2:c.733C>T	ENSP00000495428.2:p.Arg245Ter
ENST00000645129.2:c.580C>T	ENSP00000493639.2:p.Arg194Ter
ENST00000646440.2:c.733C>T	ENSP00000495830.2:p.Arg245Ter
ENST00000647078.2:c.733C>T	ENSP00000496066.1:p.Arg245Ter
ENST00000298552.9:c.733C>T MANE Select	ENSP00000298552.3:p.Arg245Ter
ENST00000403810.6:c.733C>T	ENSP00000386093.1:p.Arg245Ter
ENST00000642344.1:c.*474C>T	ENSP00000494847.1:n.*474C>T
ENST00000642617.1:c.733C>T	ENSP00000493773.1:p.Arg245Ter
ENST00000642627.1:c.733C>T	ENSP00000496772.1:p.Arg245Ter
ENST00000642646.1:c.733C>T	ENSP00000496292.1:p.Arg245Ter
ENST00000642745.1:c.733C>T	ENSP00000493963.1:p.Arg245Ter
ENST00000642811.1:c.*503C>T	ENSP00000495554.1:n.*503C>T
ENST00000642854.1:c.*518C>T	ENSP00000494639.1:n.*518C>T
ENST00000643072.1:c.580C>T	ENSP00000496691.1:p.Arg194Ter
ENST00000643362.1:c.580C>T	ENSP00000496398.1:p.Arg194Ter
ENST00000643583.1:c.733C>T	ENSP00000494685.1:p.Arg245Ter
ENST00000643691.1:c.370C>T	ENSP00000494916.1:p.Arg124Ter
ENST00000643875.1:c.733C>T	ENSP00000495158.1:p.Arg245Ter
ENST00000644097.1:c.733C>T	ENSP00000494682.1:p.Arg245Ter
ENST00000644255.1:c.*503C>T	ENSP00000493608.1:n.*503C>T
ENST00000644997.1:c.*390C>T	ENSP00000495654.1:n.*390C>T
ENST00000645129.1:c.580C>T	ENSP00000493639.1:p.Arg194Ter
ENST00000645150.1:c.733C>T	ENSP00000494365.1:p.Arg245Ter
ENST00000645901.1:n.936C>T
ENST00000646391.1:c.*503C>T	ENSP00000494104.1:n.*503C>T
ENST00000646625.1:c.733C>T	ENSP00000496263.1:p.Arg245Ter
ENST00000647078.1:c.733C>T	ENSP00000496066.1:p.Arg245Ter
ENST00000647279.1:c.663+452C>T	ENSP00000494502.1:n.663+452C>T
ENST00000647462.1:c.733C>T	ENSP00000495821.1:p.Arg245Ter
ENST00000647506.1:n.961C>T
ENST00000298552.7:c.733C>T	ENSP00000298552.3:p.Arg245Ter
ENST00000403810.5:c.733C>T	ENSP00000386093.1:p.Arg245Ter
ENST00000440111.6:c.733C>T	ENSP00000394524.2:p.Arg245Ter
ENST00000493467.5:n.929C>T
ENST00000545250.5:c.580C>T	ENSP00000444017.1:p.Arg194Ter
NM_000368.4:c.733C>T , LRG_486t1:c.733C>T	NP_000359.1:p.Arg245Ter
NM_001162426.1:c.733C>T	NP_001155898.1:p.Arg245Ter
NM_001162427.1:c.580C>T	NP_001155899.1:p.Arg194Ter
XM_005272211.1:c.733C>T	XP_005272268.1:p.Arg245Ter
XM_006717271.1:c.733C>T	XP_006717334.1:p.Arg245Ter
XM_006717272.2:c.733C>T	XP_006717335.1:p.Arg245Ter
XM_011518979.1:c.733C>T	XP_011517281.1:p.Arg245Ter
NM_001362177.1:c.370C>T	NP_001349106.1:p.Arg124Ter
XM_011518979.2:c.733C>T	XP_011517281.1:p.Arg245Ter
XM_017015096.1:c.733C>T	XP_016870585.1:p.Arg245Ter
XM_017015097.1:c.733C>T	XP_016870586.1:p.Arg245Ter
XM_017015098.1:c.733C>T	XP_016870587.1:p.Arg245Ter
XM_017015100.1:c.370C>T	XP_016870589.1:p.Arg124Ter
XM_017015101.1:c.370C>T	XP_016870590.1:p.Arg124Ter
NM_000368.5:c.733C>T MANE Select	NP_000359.1:p.Arg245Ter
NM_001162426.2:c.733C>T	NP_001155898.1:p.Arg245Ter
NM_001162427.2:c.580C>T	NP_001155899.1:p.Arg194Ter
NM_001362177.2:c.370C>T	NP_001349106.1:p.Arg124Ter