Canonical Allele Identifier: CA2692285448

Gene: TSC1

Linked Data

• gnomAD v4: 9-132895886-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132895886T>A , CM000671.2:g.132895886T>A	GRCh38
NC_000009.11:g.135771273T>A , CM000671.1:g.135771273T>A	GRCh37
NC_000009.10:g.134761094T>A	NCBI36
NG_012386.1:g.53748A>T , LRG_486:g.53748A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.*349A>T	ENSP00000496126.2:n.*349A>T
ENST00000490179.4:c.*349A>T	ENSP00000495533.2:n.*349A>T
ENST00000642261.2:c.*1700A>T	ENSP00000494743.2:n.*1700A>T
ENST00000643275.2:c.*1784A>T	ENSP00000495598.2:n.*1784A>T
ENST00000643362.2:c.*349A>T	ENSP00000496398.2:n.*349A>T
ENST00000643625.2:c.*1586A>T	ENSP00000495546.2:n.*1586A>T
ENST00000643691.2:c.*349A>T	ENSP00000494916.2:n.*349A>T
ENST00000644184.2:c.*349A>T	ENSP00000495428.2:n.*349A>T
ENST00000645129.2:c.*349A>T	ENSP00000493639.2:n.*349A>T
ENST00000646440.2:c.*349A>T	ENSP00000495830.2:n.*349A>T
ENST00000298552.9:c.*349A>T MANE Select	ENSP00000298552.3:n.*349A>T
ENST00000642627.1:c.*349A>T	ENSP00000496772.1:n.*349A>T
ENST00000642811.1:c.*3614A>T	ENSP00000495554.1:n.*3614A>T
ENST00000643625.1:c.1721A>T	ENSP00000495546.1:n.1721A>T
ENST00000643875.1:c.*349A>T	ENSP00000495158.1:n.*349A>T
ENST00000644097.1:c.*349A>T	ENSP00000494682.1:n.*349A>T
ENST00000644184.1:c.2539A>T	ENSP00000495428.1:n.2539A>T
ENST00000644786.1:n.1503A>T
ENST00000644882.1:n.2752A>T
ENST00000645901.1:n.4695A>T
ENST00000646625.1:c.*349A>T	ENSP00000496263.1:n.*349A>T
ENST00000647262.1:n.2809A>T
ENST00000647534.1:n.2908A>T
ENST00000298552.7:c.*349A>T	ENSP00000298552.3:n.*349A>T
ENST00000440111.6:c.*349A>T	ENSP00000394524.2:n.*349A>T
ENST00000545250.5:c.*349A>T	ENSP00000444017.1:n.*349A>T
NM_000368.4:c.*349A>T , LRG_486t1:c.*349A>T	NP_000359.1:n.*349A>T
NM_001162426.1:c.*349A>T	NP_001155898.1:n.*349A>T
NM_001162427.1:c.*349A>T	NP_001155899.1:n.*349A>T
XM_005272211.1:c.*349A>T	XP_005272268.1:n.*349A>T
XM_006717271.1:c.*349A>T	XP_006717334.1:n.*349A>T
XM_011518979.1:c.*349A>T	XP_011517281.1:n.*349A>T
NM_001362177.1:c.*349A>T	NP_001349106.1:n.*349A>T
XM_011518979.2:c.*349A>T	XP_011517281.1:n.*349A>T
XM_017015096.1:c.*349A>T	XP_016870585.1:n.*349A>T
XM_017015097.1:c.*349A>T	XP_016870586.1:n.*349A>T
XM_017015098.1:c.*349A>T	XP_016870587.1:n.*349A>T
XM_017015100.1:c.*349A>T	XP_016870589.1:n.*349A>T
XM_017015101.1:c.*349A>T	XP_016870590.1:n.*349A>T
NM_000368.5:c.*349A>T MANE Select	NP_000359.1:n.*349A>T
NM_001162426.2:c.*349A>T	NP_001155898.1:n.*349A>T
NM_001162427.2:c.*349A>T	NP_001155899.1:n.*349A>T
NM_001362177.2:c.*349A>T	NP_001349106.1:n.*349A>T