Canonical Allele Identifier: CA319266

Gene: TSC1

Linked Data

• ClinVar Variation Id: 207622
• ClinVar RCV Id: RCV000189830 ; RCV000697883 ; RCV001020374 ; RCV003996853
• dbSNP Id: rs796053451
• gnomAD v4: 9-132896261-T-C
• MyVariant Identifiers: chr9:g.135771648T>C (hg19) ; chr9:g.132896261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896261T>C , CM000671.2:g.132896261T>C	GRCh38
NC_000009.11:g.135771648T>C , CM000671.1:g.135771648T>C	GRCh37
NC_000009.10:g.134761469T>C	NCBI36
NG_012386.1:g.53373A>G , LRG_486:g.53373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3466A>G	ENSP00000496126.2:p.Asn1156Asp
ENST00000490179.4:c.3469A>G	ENSP00000495533.2:p.Asn1157Asp
ENST00000642261.2:c.*1325A>G	ENSP00000494743.2:n.*1325A>G
ENST00000643275.2:c.*1409A>G	ENSP00000495598.2:n.*1409A>G
ENST00000643362.2:c.3082A>G	ENSP00000496398.2:p.Asn1028Asp
ENST00000643625.2:c.*1211A>G	ENSP00000495546.2:n.*1211A>G
ENST00000643691.2:c.3106A>G	ENSP00000494916.2:p.Asn1036Asp
ENST00000644184.2:c.3427A>G	ENSP00000495428.2:p.Asn1143Asp
ENST00000645129.2:c.3313A>G	ENSP00000493639.2:p.Asn1105Asp
ENST00000646440.2:c.3469A>G	ENSP00000495830.2:p.Asn1157Asp
ENST00000298552.9:c.3469A>G MANE Select	ENSP00000298552.3:p.Asn1157Asp
ENST00000642617.1:c.3466A>G	ENSP00000493773.1:p.Asn1156Asp
ENST00000642627.1:c.3451A>G	ENSP00000496772.1:p.Asn1151Asp
ENST00000642811.1:c.*3239A>G	ENSP00000495554.1:n.*3239A>G
ENST00000643072.1:c.3316A>G	ENSP00000496691.1:p.Asn1106Asp
ENST00000643583.1:c.3454A>G	ENSP00000494685.1:p.Asn1152Asp
ENST00000643625.1:c.1346A>G	ENSP00000495546.1:n.1346A>G
ENST00000643875.1:c.3469A>G	ENSP00000495158.1:p.Asn1157Asp
ENST00000644097.1:c.3466A>G	ENSP00000494682.1:p.Asn1156Asp
ENST00000644184.1:c.2164A>G	ENSP00000495428.1:p.Asn722Asp
ENST00000644255.1:c.*3236A>G	ENSP00000493608.1:n.*3236A>G
ENST00000644319.1:n.3844A>G
ENST00000644786.1:n.1128A>G
ENST00000644882.1:n.2377A>G
ENST00000645901.1:n.4320A>G
ENST00000646391.1:c.*3239A>G	ENSP00000494104.1:n.*3239A>G
ENST00000646625.1:c.3469A>G	ENSP00000496263.1:p.Asn1157Asp
ENST00000647262.1:n.2434A>G
ENST00000647279.1:c.*2708A>G	ENSP00000494502.1:n.*2708A>G
ENST00000647534.1:n.2533A>G
ENST00000298552.7:c.3469A>G	ENSP00000298552.3:p.Asn1157Asp
ENST00000440111.6:c.3469A>G	ENSP00000394524.2:p.Asn1157Asp
ENST00000545250.5:c.3316A>G	ENSP00000444017.1:p.Asn1106Asp
NM_000368.4:c.3469A>G , LRG_486t1:c.3469A>G	NP_000359.1:p.Asn1157Asp
NM_001162426.1:c.3466A>G	NP_001155898.1:p.Asn1156Asp
NM_001162427.1:c.3316A>G	NP_001155899.1:p.Asn1106Asp
XM_005272211.1:c.3469A>G	XP_005272268.1:p.Asn1157Asp
XM_006717271.1:c.3469A>G	XP_006717334.1:p.Asn1157Asp
XM_011518979.1:c.3469A>G	XP_011517281.1:p.Asn1157Asp
NM_001362177.1:c.3106A>G	NP_001349106.1:p.Asn1036Asp
XM_011518979.2:c.3469A>G	XP_011517281.1:p.Asn1157Asp
XM_017015096.1:c.3469A>G	XP_016870585.1:p.Asn1157Asp
XM_017015097.1:c.3469A>G	XP_016870586.1:p.Asn1157Asp
XM_017015098.1:c.3466A>G	XP_016870587.1:p.Asn1156Asp
XM_017015100.1:c.3106A>G	XP_016870589.1:p.Asn1036Asp
XM_017015101.1:c.3103A>G	XP_016870590.1:p.Asn1035Asp
NM_000368.5:c.3469A>G MANE Select	NP_000359.1:p.Asn1157Asp
NM_001162426.2:c.3466A>G	NP_001155898.1:p.Asn1156Asp
NM_001162427.2:c.3316A>G	NP_001155899.1:p.Asn1106Asp
NM_001362177.2:c.3106A>G	NP_001349106.1:p.Asn1036Asp