Canonical Allele Identifier: CA467812963

Gene: TSC1

Linked Data

• dbSNP Id: rs2131590787
• gnomAD v4: 9-132896346-T-C
• MyVariant Identifiers: chr9:g.135771733T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896346T>C , CM000671.2:g.132896346T>C	GRCh38
NC_000009.11:g.135771733T>C , CM000671.1:g.135771733T>C	GRCh37
NC_000009.10:g.134761554T>C	NCBI36
NG_012386.1:g.53288A>G , LRG_486:g.53288A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.3381A>G	ENSP00000496126.2:p.Glu1127=
ENST00000490179.4:c.3384A>G	ENSP00000495533.2:p.Glu1128=
ENST00000642261.2:c.*1240A>G	ENSP00000494743.2:n.*1240A>G
ENST00000643275.2:c.*1324A>G	ENSP00000495598.2:n.*1324A>G
ENST00000643362.2:c.2997A>G	ENSP00000496398.2:p.Glu999=
ENST00000643625.2:c.*1126A>G	ENSP00000495546.2:n.*1126A>G
ENST00000643691.2:c.3021A>G	ENSP00000494916.2:p.Glu1007=
ENST00000644184.2:c.3342A>G	ENSP00000495428.2:p.Glu1114=
ENST00000645129.2:c.3228A>G	ENSP00000493639.2:p.Glu1076=
ENST00000646440.2:c.3384A>G	ENSP00000495830.2:p.Glu1128=
ENST00000298552.9:c.3384A>G MANE Select	ENSP00000298552.3:p.Glu1128=
ENST00000642617.1:c.3381A>G	ENSP00000493773.1:p.Glu1127=
ENST00000642627.1:c.3366A>G	ENSP00000496772.1:p.Glu1122=
ENST00000642811.1:c.*3154A>G	ENSP00000495554.1:n.*3154A>G
ENST00000643072.1:c.3231A>G	ENSP00000496691.1:p.Glu1077=
ENST00000643583.1:c.3369A>G	ENSP00000494685.1:p.Glu1123=
ENST00000643625.1:c.1261A>G	ENSP00000495546.1:n.1261A>G
ENST00000643875.1:c.3384A>G	ENSP00000495158.1:p.Glu1128=
ENST00000644097.1:c.3381A>G	ENSP00000494682.1:p.Glu1127=
ENST00000644184.1:c.2079A>G	ENSP00000495428.1:p.Glu693=
ENST00000644255.1:c.*3151A>G	ENSP00000493608.1:n.*3151A>G
ENST00000644319.1:n.3759A>G
ENST00000644786.1:n.1043A>G
ENST00000644882.1:n.2292A>G
ENST00000645901.1:n.4235A>G
ENST00000646391.1:c.*3154A>G	ENSP00000494104.1:n.*3154A>G
ENST00000646625.1:c.3384A>G	ENSP00000496263.1:p.Glu1128=
ENST00000647262.1:n.2349A>G
ENST00000647279.1:c.*2623A>G	ENSP00000494502.1:n.*2623A>G
ENST00000647534.1:n.2448A>G
ENST00000298552.7:c.3384A>G	ENSP00000298552.3:p.Glu1128=
ENST00000440111.6:c.3384A>G	ENSP00000394524.2:p.Glu1128=
ENST00000545250.5:c.3231A>G	ENSP00000444017.1:p.Glu1077=
NM_000368.4:c.3384A>G , LRG_486t1:c.3384A>G	NP_000359.1:p.Glu1128=
NM_001162426.1:c.3381A>G	NP_001155898.1:p.Glu1127=
NM_001162427.1:c.3231A>G	NP_001155899.1:p.Glu1077=
XM_005272211.1:c.3384A>G	XP_005272268.1:p.Glu1128=
XM_006717271.1:c.3384A>G	XP_006717334.1:p.Glu1128=
XM_011518979.1:c.3384A>G	XP_011517281.1:p.Glu1128=
NM_001362177.1:c.3021A>G	NP_001349106.1:p.Glu1007=
XM_011518979.2:c.3384A>G	XP_011517281.1:p.Glu1128=
XM_017015096.1:c.3384A>G	XP_016870585.1:p.Glu1128=
XM_017015097.1:c.3384A>G	XP_016870586.1:p.Glu1128=
XM_017015098.1:c.3381A>G	XP_016870587.1:p.Glu1127=
XM_017015100.1:c.3021A>G	XP_016870589.1:p.Glu1007=
XM_017015101.1:c.3018A>G	XP_016870590.1:p.Glu1006=
NM_000368.5:c.3384A>G MANE Select	NP_000359.1:p.Glu1128=
NM_001162426.2:c.3381A>G	NP_001155898.1:p.Glu1127=
NM_001162427.2:c.3231A>G	NP_001155899.1:p.Glu1077=
NM_001362177.2:c.3021A>G	NP_001349106.1:p.Glu1007=