Canonical Allele Identifier: CA2692285450

Gene: TSC1

Linked Data

• gnomAD v4: 9-132895887-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132895887C>A , CM000671.2:g.132895887C>A	GRCh38
NC_000009.11:g.135771274C>A , CM000671.1:g.135771274C>A	GRCh37
NC_000009.10:g.134761095C>A	NCBI36
NG_012386.1:g.53747G>T , LRG_486:g.53747G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.*348G>T	ENSP00000496126.2:n.*348G>T
ENST00000490179.4:c.*348G>T	ENSP00000495533.2:n.*348G>T
ENST00000642261.2:c.*1699G>T	ENSP00000494743.2:n.*1699G>T
ENST00000643275.2:c.*1783G>T	ENSP00000495598.2:n.*1783G>T
ENST00000643362.2:c.*348G>T	ENSP00000496398.2:n.*348G>T
ENST00000643625.2:c.*1585G>T	ENSP00000495546.2:n.*1585G>T
ENST00000643691.2:c.*348G>T	ENSP00000494916.2:n.*348G>T
ENST00000644184.2:c.*348G>T	ENSP00000495428.2:n.*348G>T
ENST00000645129.2:c.*348G>T	ENSP00000493639.2:n.*348G>T
ENST00000646440.2:c.*348G>T	ENSP00000495830.2:n.*348G>T
ENST00000298552.9:c.*348G>T MANE Select	ENSP00000298552.3:n.*348G>T
ENST00000642627.1:c.*348G>T	ENSP00000496772.1:n.*348G>T
ENST00000642811.1:c.*3613G>T	ENSP00000495554.1:n.*3613G>T
ENST00000643625.1:c.1720G>T	ENSP00000495546.1:n.1720G>T
ENST00000643875.1:c.*348G>T	ENSP00000495158.1:n.*348G>T
ENST00000644097.1:c.*348G>T	ENSP00000494682.1:n.*348G>T
ENST00000644184.1:c.2538G>T	ENSP00000495428.1:n.2538G>T
ENST00000644786.1:n.1502G>T
ENST00000644882.1:n.2751G>T
ENST00000645901.1:n.4694G>T
ENST00000646625.1:c.*348G>T	ENSP00000496263.1:n.*348G>T
ENST00000647262.1:n.2808G>T
ENST00000647534.1:n.2907G>T
ENST00000298552.7:c.*348G>T	ENSP00000298552.3:n.*348G>T
ENST00000440111.6:c.*348G>T	ENSP00000394524.2:n.*348G>T
ENST00000545250.5:c.*348G>T	ENSP00000444017.1:n.*348G>T
NM_000368.4:c.*348G>T , LRG_486t1:c.*348G>T	NP_000359.1:n.*348G>T
NM_001162426.1:c.*348G>T	NP_001155898.1:n.*348G>T
NM_001162427.1:c.*348G>T	NP_001155899.1:n.*348G>T
XM_005272211.1:c.*348G>T	XP_005272268.1:n.*348G>T
XM_006717271.1:c.*348G>T	XP_006717334.1:n.*348G>T
XM_011518979.1:c.*348G>T	XP_011517281.1:n.*348G>T
NM_001362177.1:c.*348G>T	NP_001349106.1:n.*348G>T
XM_011518979.2:c.*348G>T	XP_011517281.1:n.*348G>T
XM_017015096.1:c.*348G>T	XP_016870585.1:n.*348G>T
XM_017015097.1:c.*348G>T	XP_016870586.1:n.*348G>T
XM_017015098.1:c.*348G>T	XP_016870587.1:n.*348G>T
XM_017015100.1:c.*348G>T	XP_016870589.1:n.*348G>T
XM_017015101.1:c.*348G>T	XP_016870590.1:n.*348G>T
NM_000368.5:c.*348G>T MANE Select	NP_000359.1:n.*348G>T
NM_001162426.2:c.*348G>T	NP_001155898.1:n.*348G>T
NM_001162427.2:c.*348G>T	NP_001155899.1:n.*348G>T
NM_001362177.2:c.*348G>T	NP_001349106.1:n.*348G>T