Canonical Allele Identifier: CA375369967

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776135T>G (hg19) ; chr9:g.132900748T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900748T>G , CM000671.2:g.132900748T>G	GRCh38
NC_000009.11:g.135776135T>G , CM000671.1:g.135776135T>G	GRCh37
NC_000009.10:g.134765956T>G	NCBI36
NG_012386.1:g.48886A>C , LRG_486:g.48886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2589A>C	ENSP00000496126.2:p.Glu863Asp
ENST00000490179.4:c.2592A>C	ENSP00000495533.2:p.Glu864Asp
ENST00000642261.2:c.*371A>C	ENSP00000494743.2:n.*371A>C
ENST00000643275.2:c.*532A>C	ENSP00000495598.2:n.*532A>C
ENST00000643362.2:c.2205A>C	ENSP00000496398.2:p.Glu735Asp
ENST00000643625.2:c.*334A>C	ENSP00000495546.2:n.*334A>C
ENST00000643691.2:c.2229A>C	ENSP00000494916.2:p.Glu743Asp
ENST00000644184.2:c.2550A>C	ENSP00000495428.2:p.Glu850Asp
ENST00000645129.2:c.2436A>C	ENSP00000493639.2:p.Glu812Asp
ENST00000646440.2:c.2592A>C	ENSP00000495830.2:p.Glu864Asp
ENST00000298552.9:c.2592A>C MANE Select	ENSP00000298552.3:p.Glu864Asp
ENST00000642261.1:c.652A>C
ENST00000642617.1:c.2589A>C	ENSP00000493773.1:p.Glu863Asp
ENST00000642627.1:c.2574A>C	ENSP00000496772.1:p.Glu858Asp
ENST00000642811.1:c.*2362A>C	ENSP00000495554.1:n.*2362A>C
ENST00000643072.1:c.2439A>C	ENSP00000496691.1:p.Glu813Asp
ENST00000643275.1:c.1066A>C	ENSP00000495598.1:n.1066A>C
ENST00000643583.1:c.2577A>C	ENSP00000494685.1:p.Glu859Asp
ENST00000643625.1:c.469A>C	ENSP00000495546.1:n.469A>C
ENST00000643875.1:c.2592A>C	ENSP00000495158.1:p.Glu864Asp
ENST00000644097.1:c.2589A>C	ENSP00000494682.1:p.Glu863Asp
ENST00000644184.1:c.1287A>C	ENSP00000495428.1:p.Glu429Asp
ENST00000644255.1:c.*2359A>C	ENSP00000493608.1:n.*2359A>C
ENST00000644319.1:n.2967A>C
ENST00000644786.1:n.251A>C
ENST00000644882.1:n.1505A>C
ENST00000645901.1:n.3443A>C
ENST00000646391.1:c.*2362A>C	ENSP00000494104.1:n.*2362A>C
ENST00000646625.1:c.2592A>C	ENSP00000496263.1:p.Glu864Asp
ENST00000647262.1:n.1557A>C
ENST00000647279.1:c.*1831A>C	ENSP00000494502.1:n.*1831A>C
ENST00000647506.1:n.3468A>C
ENST00000647534.1:n.1656A>C
ENST00000298552.7:c.2592A>C	ENSP00000298552.3:p.Glu864Asp
ENST00000440111.6:c.2592A>C	ENSP00000394524.2:p.Glu864Asp
ENST00000545250.5:c.2439A>C	ENSP00000444017.1:p.Glu813Asp
NM_000368.4:c.2592A>C , LRG_486t1:c.2592A>C	NP_000359.1:p.Glu864Asp
NM_001162426.1:c.2589A>C	NP_001155898.1:p.Glu863Asp
NM_001162427.1:c.2439A>C	NP_001155899.1:p.Glu813Asp
XM_005272211.1:c.2592A>C	XP_005272268.1:p.Glu864Asp
XM_006717271.1:c.2592A>C	XP_006717334.1:p.Glu864Asp
XM_011518979.1:c.2592A>C	XP_011517281.1:p.Glu864Asp
NM_001362177.1:c.2229A>C	NP_001349106.1:p.Glu743Asp
XM_011518979.2:c.2592A>C	XP_011517281.1:p.Glu864Asp
XM_017015096.1:c.2592A>C	XP_016870585.1:p.Glu864Asp
XM_017015097.1:c.2592A>C	XP_016870586.1:p.Glu864Asp
XM_017015098.1:c.2589A>C	XP_016870587.1:p.Glu863Asp
XM_017015100.1:c.2229A>C	XP_016870589.1:p.Glu743Asp
XM_017015101.1:c.2226A>C	XP_016870590.1:p.Glu742Asp
NM_000368.5:c.2592A>C MANE Select	NP_000359.1:p.Glu864Asp
NM_001162426.2:c.2589A>C	NP_001155898.1:p.Glu863Asp
NM_001162427.2:c.2439A>C	NP_001155899.1:p.Glu813Asp
NM_001362177.2:c.2229A>C	NP_001349106.1:p.Glu743Asp