Canonical Allele Identifier: CA10582619

Gene: TSC1

Linked Data

• ClinVar Variation Id: 237719
• ClinVar RCV Id: RCV000228446 ; RCV001020245 ; RCV003998779
• dbSNP Id: rs764018144
• gnomAD v2: 9-135771701-T-G
• gnomAD v3: 9-132896314-T-G
• gnomAD v4: 9-132896314-T-G
• MyVariant Identifiers: chr9:g.135771701T>G (hg19) ; chr9:g.132896314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896314T>G , CM000671.2:g.132896314T>G	GRCh38
NC_000009.11:g.135771701T>G , CM000671.1:g.135771701T>G	GRCh37
NC_000009.10:g.134761522T>G	NCBI36
NG_012386.1:g.53320A>C , LRG_486:g.53320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3413A>C	ENSP00000496126.2:p.His1138Pro
ENST00000490179.4:c.3416A>C	ENSP00000495533.2:p.His1139Pro
ENST00000642261.2:c.*1272A>C	ENSP00000494743.2:n.*1272A>C
ENST00000643275.2:c.*1356A>C	ENSP00000495598.2:n.*1356A>C
ENST00000643362.2:c.3029A>C	ENSP00000496398.2:p.His1010Pro
ENST00000643625.2:c.*1158A>C	ENSP00000495546.2:n.*1158A>C
ENST00000643691.2:c.3053A>C	ENSP00000494916.2:p.His1018Pro
ENST00000644184.2:c.3374A>C	ENSP00000495428.2:p.His1125Pro
ENST00000645129.2:c.3260A>C	ENSP00000493639.2:p.His1087Pro
ENST00000646440.2:c.3416A>C	ENSP00000495830.2:p.His1139Pro
ENST00000298552.9:c.3416A>C MANE Select	ENSP00000298552.3:p.His1139Pro
ENST00000642617.1:c.3413A>C	ENSP00000493773.1:p.His1138Pro
ENST00000642627.1:c.3398A>C	ENSP00000496772.1:p.His1133Pro
ENST00000642811.1:c.*3186A>C	ENSP00000495554.1:n.*3186A>C
ENST00000643072.1:c.3263A>C	ENSP00000496691.1:p.His1088Pro
ENST00000643583.1:c.3401A>C	ENSP00000494685.1:p.His1134Pro
ENST00000643625.1:c.1293A>C	ENSP00000495546.1:n.1293A>C
ENST00000643875.1:c.3416A>C	ENSP00000495158.1:p.His1139Pro
ENST00000644097.1:c.3413A>C	ENSP00000494682.1:p.His1138Pro
ENST00000644184.1:c.2111A>C	ENSP00000495428.1:p.His704Pro
ENST00000644255.1:c.*3183A>C	ENSP00000493608.1:n.*3183A>C
ENST00000644319.1:n.3791A>C
ENST00000644786.1:n.1075A>C
ENST00000644882.1:n.2324A>C
ENST00000645901.1:n.4267A>C
ENST00000646391.1:c.*3186A>C	ENSP00000494104.1:n.*3186A>C
ENST00000646625.1:c.3416A>C	ENSP00000496263.1:p.His1139Pro
ENST00000647262.1:n.2381A>C
ENST00000647279.1:c.*2655A>C	ENSP00000494502.1:n.*2655A>C
ENST00000647534.1:n.2480A>C
ENST00000298552.7:c.3416A>C	ENSP00000298552.3:p.His1139Pro
ENST00000440111.6:c.3416A>C	ENSP00000394524.2:p.His1139Pro
ENST00000545250.5:c.3263A>C	ENSP00000444017.1:p.His1088Pro
NM_000368.4:c.3416A>C , LRG_486t1:c.3416A>C	NP_000359.1:p.His1139Pro
NM_001162426.1:c.3413A>C	NP_001155898.1:p.His1138Pro
NM_001162427.1:c.3263A>C	NP_001155899.1:p.His1088Pro
XM_005272211.1:c.3416A>C	XP_005272268.1:p.His1139Pro
XM_006717271.1:c.3416A>C	XP_006717334.1:p.His1139Pro
XM_011518979.1:c.3416A>C	XP_011517281.1:p.His1139Pro
NM_001362177.1:c.3053A>C	NP_001349106.1:p.His1018Pro
XM_011518979.2:c.3416A>C	XP_011517281.1:p.His1139Pro
XM_017015096.1:c.3416A>C	XP_016870585.1:p.His1139Pro
XM_017015097.1:c.3416A>C	XP_016870586.1:p.His1139Pro
XM_017015098.1:c.3413A>C	XP_016870587.1:p.His1138Pro
XM_017015100.1:c.3053A>C	XP_016870589.1:p.His1018Pro
XM_017015101.1:c.3050A>C	XP_016870590.1:p.His1017Pro
NM_000368.5:c.3416A>C MANE Select	NP_000359.1:p.His1139Pro
NM_001162426.2:c.3413A>C	NP_001155898.1:p.His1138Pro
NM_001162427.2:c.3263A>C	NP_001155899.1:p.His1088Pro
NM_001362177.2:c.3053A>C	NP_001349106.1:p.His1018Pro