Canonical Allele Identifier: CA030232

Gene: TSC1

Linked Data

• ClinVar Variation Id: 534511
• ClinVar RCV Id: RCV000642090 ; RCV002422311
• dbSNP Id: rs747452647
• ExAC: 9:135781011 G / A
• gnomAD v2: 9-135781011-G-A
• gnomAD v3: 9-132905624-G-A
• gnomAD v4: 9-132905624-G-A
• MyVariant Identifiers: chr9:g.135781011G>A (hg19) ; chr9:g.132905624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905624G>A , CM000671.2:g.132905624G>A	GRCh38
NC_000009.11:g.135781011G>A , CM000671.1:g.135781011G>A	GRCh37
NC_000009.10:g.134770832G>A	NCBI36
NG_012386.1:g.44010C>T , LRG_486:g.44010C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1951C>T	ENSP00000496126.2:p.Leu651=
ENST00000490179.4:c.1954C>T	ENSP00000495533.2:p.Leu652=
ENST00000642261.2:c.1954C>T	ENSP00000494743.2:p.Leu652=
ENST00000643275.2:c.1954C>T	ENSP00000495598.2:p.Leu652=
ENST00000643362.2:c.1567C>T	ENSP00000496398.2:p.Leu523=
ENST00000643625.2:c.1954C>T	ENSP00000495546.2:p.Leu652=
ENST00000643691.2:c.1591C>T	ENSP00000494916.2:p.Leu531=
ENST00000644184.2:c.1954C>T	ENSP00000495428.2:p.Leu652=
ENST00000645129.2:c.1798C>T	ENSP00000493639.2:p.Leu600=
ENST00000646440.2:c.1954C>T	ENSP00000495830.2:p.Leu652=
ENST00000298552.9:c.1954C>T MANE Select	ENSP00000298552.3:p.Leu652=
ENST00000642261.1:c.18C>T
ENST00000642617.1:c.1951C>T	ENSP00000493773.1:p.Leu651=
ENST00000642627.1:c.1951C>T	ENSP00000496772.1:p.Leu651=
ENST00000642811.1:c.*1724C>T	ENSP00000495554.1:n.*1724C>T
ENST00000643072.1:c.1801C>T	ENSP00000496691.1:p.Leu601=
ENST00000643275.1:c.472C>T	ENSP00000495598.1:p.Leu158=
ENST00000643583.1:c.1954C>T	ENSP00000494685.1:p.Leu652=
ENST00000643875.1:c.1954C>T	ENSP00000495158.1:p.Leu652=
ENST00000644097.1:c.1951C>T	ENSP00000494682.1:p.Leu651=
ENST00000644184.1:c.691C>T	ENSP00000495428.1:p.Leu231=
ENST00000644255.1:c.*1721C>T	ENSP00000493608.1:n.*1721C>T
ENST00000644319.1:n.2329C>T
ENST00000644882.1:n.909C>T
ENST00000645901.1:n.2805C>T
ENST00000646391.1:c.*1724C>T	ENSP00000494104.1:n.*1724C>T
ENST00000646625.1:c.1954C>T	ENSP00000496263.1:p.Leu652=
ENST00000647262.1:n.919C>T
ENST00000647279.1:c.*1193C>T	ENSP00000494502.1:n.*1193C>T
ENST00000647506.1:n.2830C>T
ENST00000647534.1:n.1018C>T
ENST00000298552.7:c.1954C>T	ENSP00000298552.3:p.Leu652=
ENST00000440111.6:c.1954C>T	ENSP00000394524.2:p.Leu652=
ENST00000545250.5:c.1801C>T	ENSP00000444017.1:p.Leu601=
NM_000368.4:c.1954C>T , LRG_486t1:c.1954C>T	NP_000359.1:p.Leu652=
NM_001162426.1:c.1951C>T	NP_001155898.1:p.Leu651=
NM_001162427.1:c.1801C>T	NP_001155899.1:p.Leu601=
XM_005272211.1:c.1954C>T	XP_005272268.1:p.Leu652=
XM_006717271.1:c.1954C>T	XP_006717334.1:p.Leu652=
XM_006717272.2:c.1954C>T	XP_006717335.1:p.Leu652=
XM_011518979.1:c.1954C>T	XP_011517281.1:p.Leu652=
NM_001362177.1:c.1591C>T	NP_001349106.1:p.Leu531=
XM_011518979.2:c.1954C>T	XP_011517281.1:p.Leu652=
XM_017015096.1:c.1954C>T	XP_016870585.1:p.Leu652=
XM_017015097.1:c.1954C>T	XP_016870586.1:p.Leu652=
XM_017015098.1:c.1951C>T	XP_016870587.1:p.Leu651=
XM_017015100.1:c.1591C>T	XP_016870589.1:p.Leu531=
XM_017015101.1:c.1588C>T	XP_016870590.1:p.Leu530=
NM_000368.5:c.1954C>T MANE Select	NP_000359.1:p.Leu652=
NM_001162426.2:c.1951C>T	NP_001155898.1:p.Leu651=
NM_001162427.2:c.1801C>T	NP_001155899.1:p.Leu601=
NM_001362177.2:c.1591C>T	NP_001349106.1:p.Leu531=