Canonical Allele Identifier: CA200924968

Gene: TSC1

Linked Data

• dbSNP Id: rs997361841
• gnomAD v3: 9-132895876-T-G
• gnomAD v4: 9-132895876-T-G
• MyVariant Identifiers: chr9:g.135771263T>G (hg19) ; chr9:g.132895876T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132895876T>G , CM000671.2:g.132895876T>G	GRCh38
NC_000009.11:g.135771263T>G , CM000671.1:g.135771263T>G	GRCh37
NC_000009.10:g.134761084T>G	NCBI36
NG_012386.1:g.53758A>C , LRG_486:g.53758A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.*359A>C	ENSP00000496126.2:n.*359A>C
ENST00000490179.4:c.*359A>C	ENSP00000495533.2:n.*359A>C
ENST00000642261.2:c.*1710A>C	ENSP00000494743.2:n.*1710A>C
ENST00000643275.2:c.*1794A>C	ENSP00000495598.2:n.*1794A>C
ENST00000643362.2:c.*359A>C	ENSP00000496398.2:n.*359A>C
ENST00000643625.2:c.*1596A>C	ENSP00000495546.2:n.*1596A>C
ENST00000643691.2:c.*359A>C	ENSP00000494916.2:n.*359A>C
ENST00000644184.2:c.*359A>C	ENSP00000495428.2:n.*359A>C
ENST00000645129.2:c.*359A>C	ENSP00000493639.2:n.*359A>C
ENST00000646440.2:c.*359A>C	ENSP00000495830.2:n.*359A>C
ENST00000298552.9:c.*359A>C MANE Select	ENSP00000298552.3:n.*359A>C
ENST00000642627.1:c.*359A>C	ENSP00000496772.1:n.*359A>C
ENST00000642811.1:c.*3624A>C	ENSP00000495554.1:n.*3624A>C
ENST00000643625.1:c.1731A>C	ENSP00000495546.1:n.1731A>C
ENST00000643875.1:c.*359A>C	ENSP00000495158.1:n.*359A>C
ENST00000644097.1:c.*359A>C	ENSP00000494682.1:n.*359A>C
ENST00000644184.1:c.2549A>C	ENSP00000495428.1:n.2549A>C
ENST00000644786.1:n.1513A>C
ENST00000644882.1:n.2762A>C
ENST00000645901.1:n.4705A>C
ENST00000646625.1:c.*359A>C	ENSP00000496263.1:n.*359A>C
ENST00000647262.1:n.2819A>C
ENST00000647534.1:n.2918A>C
ENST00000298552.7:c.*359A>C	ENSP00000298552.3:n.*359A>C
ENST00000440111.6:c.*359A>C	ENSP00000394524.2:n.*359A>C
ENST00000545250.5:c.*359A>C	ENSP00000444017.1:n.*359A>C
NM_000368.4:c.*359A>C , LRG_486t1:c.*359A>C	NP_000359.1:n.*359A>C
NM_001162426.1:c.*359A>C	NP_001155898.1:n.*359A>C
NM_001162427.1:c.*359A>C	NP_001155899.1:n.*359A>C
XM_005272211.1:c.*359A>C	XP_005272268.1:n.*359A>C
XM_006717271.1:c.*359A>C	XP_006717334.1:n.*359A>C
XM_011518979.1:c.*359A>C	XP_011517281.1:n.*359A>C
NM_001362177.1:c.*359A>C	NP_001349106.1:n.*359A>C
XM_011518979.2:c.*359A>C	XP_011517281.1:n.*359A>C
XM_017015096.1:c.*359A>C	XP_016870585.1:n.*359A>C
XM_017015097.1:c.*359A>C	XP_016870586.1:n.*359A>C
XM_017015098.1:c.*359A>C	XP_016870587.1:n.*359A>C
XM_017015100.1:c.*359A>C	XP_016870589.1:n.*359A>C
XM_017015101.1:c.*359A>C	XP_016870590.1:n.*359A>C
NM_000368.5:c.*359A>C MANE Select	NP_000359.1:n.*359A>C
NM_001162426.2:c.*359A>C	NP_001155898.1:n.*359A>C
NM_001162427.2:c.*359A>C	NP_001155899.1:n.*359A>C
NM_001362177.2:c.*359A>C	NP_001349106.1:n.*359A>C