Canonical Allele Identifier: CA467812900

Gene: TSC1

Linked Data

• dbSNP Id: rs1373256935
• gnomAD v3: 9-132896319-G-A
• gnomAD v4: 9-132896319-G-A
• MyVariant Identifiers: chr9:g.135771706G>A (hg19) ; chr9:g.132896319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896319G>A , CM000671.2:g.132896319G>A	GRCh38
NC_000009.11:g.135771706G>A , CM000671.1:g.135771706G>A	GRCh37
NC_000009.10:g.134761527G>A	NCBI36
NG_012386.1:g.53315C>T , LRG_486:g.53315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3408C>T	ENSP00000496126.2:p.Gly1136=
ENST00000490179.4:c.3411C>T	ENSP00000495533.2:p.Gly1137=
ENST00000642261.2:c.*1267C>T	ENSP00000494743.2:n.*1267C>T
ENST00000643275.2:c.*1351C>T	ENSP00000495598.2:n.*1351C>T
ENST00000643362.2:c.3024C>T	ENSP00000496398.2:p.Gly1008=
ENST00000643625.2:c.*1153C>T	ENSP00000495546.2:n.*1153C>T
ENST00000643691.2:c.3048C>T	ENSP00000494916.2:p.Gly1016=
ENST00000644184.2:c.3369C>T	ENSP00000495428.2:p.Gly1123=
ENST00000645129.2:c.3255C>T	ENSP00000493639.2:p.Gly1085=
ENST00000646440.2:c.3411C>T	ENSP00000495830.2:p.Gly1137=
ENST00000298552.9:c.3411C>T MANE Select	ENSP00000298552.3:p.Gly1137=
ENST00000642617.1:c.3408C>T	ENSP00000493773.1:p.Gly1136=
ENST00000642627.1:c.3393C>T	ENSP00000496772.1:p.Gly1131=
ENST00000642811.1:c.*3181C>T	ENSP00000495554.1:n.*3181C>T
ENST00000643072.1:c.3258C>T	ENSP00000496691.1:p.Gly1086=
ENST00000643583.1:c.3396C>T	ENSP00000494685.1:p.Gly1132=
ENST00000643625.1:c.1288C>T	ENSP00000495546.1:n.1288C>T
ENST00000643875.1:c.3411C>T	ENSP00000495158.1:p.Gly1137=
ENST00000644097.1:c.3408C>T	ENSP00000494682.1:p.Gly1136=
ENST00000644184.1:c.2106C>T	ENSP00000495428.1:p.Gly702=
ENST00000644255.1:c.*3178C>T	ENSP00000493608.1:n.*3178C>T
ENST00000644319.1:n.3786C>T
ENST00000644786.1:n.1070C>T
ENST00000644882.1:n.2319C>T
ENST00000645901.1:n.4262C>T
ENST00000646391.1:c.*3181C>T	ENSP00000494104.1:n.*3181C>T
ENST00000646625.1:c.3411C>T	ENSP00000496263.1:p.Gly1137=
ENST00000647262.1:n.2376C>T
ENST00000647279.1:c.*2650C>T	ENSP00000494502.1:n.*2650C>T
ENST00000647534.1:n.2475C>T
ENST00000298552.7:c.3411C>T	ENSP00000298552.3:p.Gly1137=
ENST00000440111.6:c.3411C>T	ENSP00000394524.2:p.Gly1137=
ENST00000545250.5:c.3258C>T	ENSP00000444017.1:p.Gly1086=
NM_000368.4:c.3411C>T , LRG_486t1:c.3411C>T	NP_000359.1:p.Gly1137=
NM_001162426.1:c.3408C>T	NP_001155898.1:p.Gly1136=
NM_001162427.1:c.3258C>T	NP_001155899.1:p.Gly1086=
XM_005272211.1:c.3411C>T	XP_005272268.1:p.Gly1137=
XM_006717271.1:c.3411C>T	XP_006717334.1:p.Gly1137=
XM_011518979.1:c.3411C>T	XP_011517281.1:p.Gly1137=
NM_001362177.1:c.3048C>T	NP_001349106.1:p.Gly1016=
XM_011518979.2:c.3411C>T	XP_011517281.1:p.Gly1137=
XM_017015096.1:c.3411C>T	XP_016870585.1:p.Gly1137=
XM_017015097.1:c.3411C>T	XP_016870586.1:p.Gly1137=
XM_017015098.1:c.3408C>T	XP_016870587.1:p.Gly1136=
XM_017015100.1:c.3048C>T	XP_016870589.1:p.Gly1016=
XM_017015101.1:c.3045C>T	XP_016870590.1:p.Gly1015=
NM_000368.5:c.3411C>T MANE Select	NP_000359.1:p.Gly1137=
NM_001162426.2:c.3408C>T	NP_001155898.1:p.Gly1136=
NM_001162427.2:c.3258C>T	NP_001155899.1:p.Gly1086=
NM_001362177.2:c.3048C>T	NP_001349106.1:p.Gly1016=