Canonical Allele Identifier: CA375361013

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1005583
• ClinVar RCV Id: RCV001302483 ; RCV002418916 ; RCV004005010
• dbSNP Id: rs1845501093
• MyVariant Identifiers: chr9:g.135779127A>G (hg19) ; chr9:g.132903740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903740A>G , CM000671.2:g.132903740A>G	GRCh38
NC_000009.11:g.135779127A>G , CM000671.1:g.135779127A>G	GRCh37
NC_000009.10:g.134768948A>G	NCBI36
NG_012386.1:g.45894T>C , LRG_486:g.45894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2116T>C	ENSP00000496126.2:p.Phe706Leu
ENST00000490179.4:c.2119T>C	ENSP00000495533.2:p.Phe707Leu
ENST00000642261.2:c.2119T>C	ENSP00000494743.2:p.Phe707Leu
ENST00000643275.2:c.*59T>C	ENSP00000495598.2:n.*59T>C
ENST00000643362.2:c.1732T>C	ENSP00000496398.2:p.Phe578Leu
ENST00000643625.2:c.2041+671T>C	ENSP00000495546.2:n.2041+671T>C
ENST00000643691.2:c.1756T>C	ENSP00000494916.2:p.Phe586Leu
ENST00000644184.2:c.2119T>C	ENSP00000495428.2:p.Phe707Leu
ENST00000645129.2:c.1963T>C	ENSP00000493639.2:p.Phe655Leu
ENST00000646440.2:c.2119T>C	ENSP00000495830.2:p.Phe707Leu
ENST00000298552.9:c.2119T>C MANE Select	ENSP00000298552.3:p.Phe707Leu
ENST00000642261.1:c.183T>C
ENST00000642617.1:c.2116T>C	ENSP00000493773.1:p.Phe706Leu
ENST00000642627.1:c.2101T>C	ENSP00000496772.1:p.Phe701Leu
ENST00000642811.1:c.*1889T>C	ENSP00000495554.1:n.*1889T>C
ENST00000643072.1:c.1966T>C	ENSP00000496691.1:p.Phe656Leu
ENST00000643275.1:c.593T>C	ENSP00000495598.1:n.593T>C
ENST00000643583.1:c.2104T>C	ENSP00000494685.1:p.Phe702Leu
ENST00000643625.1:c.85+671T>C	ENSP00000495546.1:n.85+671T>C
ENST00000643875.1:c.2119T>C	ENSP00000495158.1:p.Phe707Leu
ENST00000644097.1:c.2116T>C	ENSP00000494682.1:p.Phe706Leu
ENST00000644184.1:c.856T>C	ENSP00000495428.1:p.Phe286Leu
ENST00000644255.1:c.*1886T>C	ENSP00000493608.1:n.*1886T>C
ENST00000644319.1:n.2494T>C
ENST00000644882.1:n.1074T>C
ENST00000645901.1:n.2970T>C
ENST00000646391.1:c.*1889T>C	ENSP00000494104.1:n.*1889T>C
ENST00000646625.1:c.2119T>C	ENSP00000496263.1:p.Phe707Leu
ENST00000647262.1:n.1084T>C
ENST00000647279.1:c.*1358T>C	ENSP00000494502.1:n.*1358T>C
ENST00000647506.1:n.2995T>C
ENST00000647534.1:n.1183T>C
ENST00000298552.7:c.2119T>C	ENSP00000298552.3:p.Phe707Leu
ENST00000440111.6:c.2119T>C	ENSP00000394524.2:p.Phe707Leu
ENST00000545250.5:c.1966T>C	ENSP00000444017.1:p.Phe656Leu
NM_000368.4:c.2119T>C , LRG_486t1:c.2119T>C	NP_000359.1:p.Phe707Leu
NM_001162426.1:c.2116T>C	NP_001155898.1:p.Phe706Leu
NM_001162427.1:c.1966T>C	NP_001155899.1:p.Phe656Leu
XM_005272211.1:c.2119T>C	XP_005272268.1:p.Phe707Leu
XM_006717271.1:c.2119T>C	XP_006717334.1:p.Phe707Leu
XM_011518979.1:c.2119T>C	XP_011517281.1:p.Phe707Leu
NM_001362177.1:c.1756T>C	NP_001349106.1:p.Phe586Leu
XM_011518979.2:c.2119T>C	XP_011517281.1:p.Phe707Leu
XM_017015096.1:c.2119T>C	XP_016870585.1:p.Phe707Leu
XM_017015097.1:c.2119T>C	XP_016870586.1:p.Phe707Leu
XM_017015098.1:c.2116T>C	XP_016870587.1:p.Phe706Leu
XM_017015100.1:c.1756T>C	XP_016870589.1:p.Phe586Leu
XM_017015101.1:c.1753T>C	XP_016870590.1:p.Phe585Leu
NM_000368.5:c.2119T>C MANE Select	NP_000359.1:p.Phe707Leu
NM_001162426.2:c.2116T>C	NP_001155898.1:p.Phe706Leu
NM_001162427.2:c.1966T>C	NP_001155899.1:p.Phe656Leu
NM_001362177.2:c.1756T>C	NP_001349106.1:p.Phe586Leu