Canonical Allele Identifier: CA375360085

Gene: TSC1

Linked Data

• ClinVar Variation Id: 820921
• ClinVar RCV Id: RCV001014846 ; RCV001860777
• dbSNP Id: rs1588302047
• MyVariant Identifiers: chr9:g.135778161T>G (hg19) ; chr9:g.132902774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902774T>G , CM000671.2:g.132902774T>G	GRCh38
NC_000009.11:g.135778161T>G , CM000671.1:g.135778161T>G	GRCh37
NC_000009.10:g.134767982T>G	NCBI36
NG_012386.1:g.46860A>C , LRG_486:g.46860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2219A>C	ENSP00000496126.2:p.Lys740Thr
ENST00000490179.4:c.2222A>C	ENSP00000495533.2:p.Lys741Thr
ENST00000642261.2:c.*1A>C	ENSP00000494743.2:n.*1A>C
ENST00000643275.2:c.*162A>C	ENSP00000495598.2:n.*162A>C
ENST00000643362.2:c.1835A>C	ENSP00000496398.2:p.Lys612Thr
ENST00000643625.2:c.2055A>C	ENSP00000495546.2:p.Glu685Asp
ENST00000643691.2:c.1859A>C	ENSP00000494916.2:p.Lys620Thr
ENST00000644184.2:c.2222A>C	ENSP00000495428.2:p.Lys741Thr
ENST00000645129.2:c.2066A>C	ENSP00000493639.2:p.Lys689Thr
ENST00000646440.2:c.2222A>C	ENSP00000495830.2:p.Lys741Thr
ENST00000298552.9:c.2222A>C MANE Select	ENSP00000298552.3:p.Lys741Thr
ENST00000642261.1:c.282A>C
ENST00000642617.1:c.2219A>C	ENSP00000493773.1:p.Lys740Thr
ENST00000642627.1:c.2204A>C	ENSP00000496772.1:p.Lys735Thr
ENST00000642811.1:c.*1992A>C	ENSP00000495554.1:n.*1992A>C
ENST00000643072.1:c.2069A>C	ENSP00000496691.1:p.Lys690Thr
ENST00000643275.1:c.696A>C	ENSP00000495598.1:n.696A>C
ENST00000643583.1:c.2207A>C	ENSP00000494685.1:p.Lys736Thr
ENST00000643625.1:c.99A>C	ENSP00000495546.1:p.Glu33Asp
ENST00000643875.1:c.2222A>C	ENSP00000495158.1:p.Lys741Thr
ENST00000644097.1:c.2219A>C	ENSP00000494682.1:p.Lys740Thr
ENST00000644184.1:c.959A>C	ENSP00000495428.1:p.Lys320Thr
ENST00000644255.1:c.*1989A>C	ENSP00000493608.1:n.*1989A>C
ENST00000644319.1:n.2597A>C
ENST00000644882.1:n.1177A>C
ENST00000645901.1:n.3073A>C
ENST00000646391.1:c.*1992A>C	ENSP00000494104.1:n.*1992A>C
ENST00000646625.1:c.2222A>C	ENSP00000496263.1:p.Lys741Thr
ENST00000647262.1:n.1187A>C
ENST00000647279.1:c.*1461A>C	ENSP00000494502.1:n.*1461A>C
ENST00000647506.1:n.3098A>C
ENST00000647534.1:n.1286A>C
ENST00000298552.7:c.2222A>C	ENSP00000298552.3:p.Lys741Thr
ENST00000440111.6:c.2222A>C	ENSP00000394524.2:p.Lys741Thr
ENST00000545250.5:c.2069A>C	ENSP00000444017.1:p.Lys690Thr
NM_000368.4:c.2222A>C , LRG_486t1:c.2222A>C	NP_000359.1:p.Lys741Thr
NM_001162426.1:c.2219A>C	NP_001155898.1:p.Lys740Thr
NM_001162427.1:c.2069A>C	NP_001155899.1:p.Lys690Thr
XM_005272211.1:c.2222A>C	XP_005272268.1:p.Lys741Thr
XM_006717271.1:c.2222A>C	XP_006717334.1:p.Lys741Thr
XM_011518979.1:c.2222A>C	XP_011517281.1:p.Lys741Thr
NM_001362177.1:c.1859A>C	NP_001349106.1:p.Lys620Thr
XM_011518979.2:c.2222A>C	XP_011517281.1:p.Lys741Thr
XM_017015096.1:c.2222A>C	XP_016870585.1:p.Lys741Thr
XM_017015097.1:c.2222A>C	XP_016870586.1:p.Lys741Thr
XM_017015098.1:c.2219A>C	XP_016870587.1:p.Lys740Thr
XM_017015100.1:c.1859A>C	XP_016870589.1:p.Lys620Thr
XM_017015101.1:c.1856A>C	XP_016870590.1:p.Lys619Thr
NM_000368.5:c.2222A>C MANE Select	NP_000359.1:p.Lys741Thr
NM_001162426.2:c.2219A>C	NP_001155898.1:p.Lys740Thr
NM_001162427.2:c.2069A>C	NP_001155899.1:p.Lys690Thr
NM_001362177.2:c.1859A>C	NP_001349106.1:p.Lys620Thr