Canonical Allele Identifier: CA375366183

Gene: TSC1

Linked Data

• ClinVar Variation Id: 486593
• ClinVar RCV Id: RCV000567662 ; RCV001836841 ; RCV004001140
• dbSNP Id: rs1554816420
• gnomAD v3: 9-132907351-G-A
• gnomAD v4: 9-132907351-G-A
• MyVariant Identifiers: chr9:g.135782738G>A (hg19) ; chr9:g.132907351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907351G>A , CM000671.2:g.132907351G>A	GRCh38
NC_000009.11:g.135782738G>A , CM000671.1:g.135782738G>A	GRCh37
NC_000009.10:g.134772559G>A	NCBI36
NG_012386.1:g.42283C>T , LRG_486:g.42283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1280C>T	ENSP00000496126.2:p.Ala427Val
ENST00000490179.4:c.1283C>T	ENSP00000495533.2:p.Ala428Val
ENST00000642261.2:c.1283C>T	ENSP00000494743.2:p.Ala428Val
ENST00000643275.2:c.1283C>T	ENSP00000495598.2:p.Ala428Val
ENST00000643362.2:c.896C>T	ENSP00000496398.2:p.Ala299Val
ENST00000643625.2:c.1283C>T	ENSP00000495546.2:p.Ala428Val
ENST00000643691.2:c.920C>T	ENSP00000494916.2:p.Ala307Val
ENST00000644184.2:c.1283C>T	ENSP00000495428.2:p.Ala428Val
ENST00000645129.2:c.1127C>T	ENSP00000493639.2:p.Ala376Val
ENST00000646440.2:c.1283C>T	ENSP00000495830.2:p.Ala428Val
ENST00000298552.9:c.1283C>T MANE Select	ENSP00000298552.3:p.Ala428Val
ENST00000642344.1:c.*1024C>T	ENSP00000494847.1:n.*1024C>T
ENST00000642617.1:c.1280C>T	ENSP00000493773.1:p.Ala427Val
ENST00000642627.1:c.1280C>T	ENSP00000496772.1:p.Ala427Val
ENST00000642811.1:c.*1053C>T	ENSP00000495554.1:n.*1053C>T
ENST00000643072.1:c.1130C>T	ENSP00000496691.1:p.Ala377Val
ENST00000643362.1:c.896C>T	ENSP00000496398.1:p.Ala299Val
ENST00000643583.1:c.1283C>T	ENSP00000494685.1:p.Ala428Val
ENST00000643875.1:c.1283C>T	ENSP00000495158.1:p.Ala428Val
ENST00000644097.1:c.1280C>T	ENSP00000494682.1:p.Ala427Val
ENST00000644184.1:c.20C>T	ENSP00000495428.1:p.Ala7Val
ENST00000644255.1:c.*1050C>T	ENSP00000493608.1:n.*1050C>T
ENST00000644319.1:n.1658C>T
ENST00000645901.1:n.2134C>T
ENST00000646391.1:c.*1053C>T	ENSP00000494104.1:n.*1053C>T
ENST00000646625.1:c.1283C>T	ENSP00000496263.1:p.Ala428Val
ENST00000647279.1:c.*522C>T	ENSP00000494502.1:n.*522C>T
ENST00000647506.1:n.2159C>T
ENST00000647534.1:n.347C>T
ENST00000298552.7:c.1283C>T	ENSP00000298552.3:p.Ala428Val
ENST00000440111.6:c.1283C>T	ENSP00000394524.2:p.Ala428Val
ENST00000545250.5:c.1130C>T	ENSP00000444017.1:p.Ala377Val
NM_000368.4:c.1283C>T , LRG_486t1:c.1283C>T	NP_000359.1:p.Ala428Val
NM_001162426.1:c.1280C>T	NP_001155898.1:p.Ala427Val
NM_001162427.1:c.1130C>T	NP_001155899.1:p.Ala377Val
XM_005272211.1:c.1283C>T	XP_005272268.1:p.Ala428Val
XM_006717271.1:c.1283C>T	XP_006717334.1:p.Ala428Val
XM_006717272.2:c.1283C>T	XP_006717335.1:p.Ala428Val
XM_011518979.1:c.1283C>T	XP_011517281.1:p.Ala428Val
NM_001362177.1:c.920C>T	NP_001349106.1:p.Ala307Val
XM_011518979.2:c.1283C>T	XP_011517281.1:p.Ala428Val
XM_017015096.1:c.1283C>T	XP_016870585.1:p.Ala428Val
XM_017015097.1:c.1283C>T	XP_016870586.1:p.Ala428Val
XM_017015098.1:c.1280C>T	XP_016870587.1:p.Ala427Val
XM_017015100.1:c.920C>T	XP_016870589.1:p.Ala307Val
XM_017015101.1:c.917C>T	XP_016870590.1:p.Ala306Val
NM_000368.5:c.1283C>T MANE Select	NP_000359.1:p.Ala428Val
NM_001162426.2:c.1280C>T	NP_001155898.1:p.Ala427Val
NM_001162427.2:c.1130C>T	NP_001155899.1:p.Ala377Val
NM_001362177.2:c.920C>T	NP_001349106.1:p.Ala307Val