Canonical Allele Identifier: CA375360913

Gene: TSC1

Linked Data

• ClinVar Variation Id: 466066
• ClinVar RCV Id: RCV000554328
• dbSNP Id: rs1438737976
• MyVariant Identifiers: chr9:g.135779105A>T (hg19) ; chr9:g.132903718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903718A>T , CM000671.2:g.132903718A>T	GRCh38
NC_000009.11:g.135779105A>T , CM000671.1:g.135779105A>T	GRCh37
NC_000009.10:g.134768926A>T	NCBI36
NG_012386.1:g.45916T>A , LRG_486:g.45916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2138T>A	ENSP00000496126.2:p.Leu713His
ENST00000490179.4:c.2141T>A	ENSP00000495533.2:p.Leu714His
ENST00000642261.2:c.2141T>A	ENSP00000494743.2:p.Leu714His
ENST00000643275.2:c.*81T>A	ENSP00000495598.2:n.*81T>A
ENST00000643362.2:c.1754T>A	ENSP00000496398.2:p.Leu585His
ENST00000643625.2:c.2041+693T>A	ENSP00000495546.2:n.2041+693T>A
ENST00000643691.2:c.1778T>A	ENSP00000494916.2:p.Leu593His
ENST00000644184.2:c.2141T>A	ENSP00000495428.2:p.Leu714His
ENST00000645129.2:c.1985T>A	ENSP00000493639.2:p.Leu662His
ENST00000646440.2:c.2141T>A	ENSP00000495830.2:p.Leu714His
ENST00000298552.9:c.2141T>A MANE Select	ENSP00000298552.3:p.Leu714His
ENST00000642261.1:c.205T>A
ENST00000642617.1:c.2138T>A	ENSP00000493773.1:p.Leu713His
ENST00000642627.1:c.2123T>A	ENSP00000496772.1:p.Leu708His
ENST00000642811.1:c.*1911T>A	ENSP00000495554.1:n.*1911T>A
ENST00000643072.1:c.1988T>A	ENSP00000496691.1:p.Leu663His
ENST00000643275.1:c.615T>A	ENSP00000495598.1:n.615T>A
ENST00000643583.1:c.2126T>A	ENSP00000494685.1:p.Leu709His
ENST00000643625.1:c.85+693T>A	ENSP00000495546.1:n.85+693T>A
ENST00000643875.1:c.2141T>A	ENSP00000495158.1:p.Leu714His
ENST00000644097.1:c.2138T>A	ENSP00000494682.1:p.Leu713His
ENST00000644184.1:c.878T>A	ENSP00000495428.1:p.Leu293His
ENST00000644255.1:c.*1908T>A	ENSP00000493608.1:n.*1908T>A
ENST00000644319.1:n.2516T>A
ENST00000644882.1:n.1096T>A
ENST00000645901.1:n.2992T>A
ENST00000646391.1:c.*1911T>A	ENSP00000494104.1:n.*1911T>A
ENST00000646625.1:c.2141T>A	ENSP00000496263.1:p.Leu714His
ENST00000647262.1:n.1106T>A
ENST00000647279.1:c.*1380T>A	ENSP00000494502.1:n.*1380T>A
ENST00000647506.1:n.3017T>A
ENST00000647534.1:n.1205T>A
ENST00000298552.7:c.2141T>A	ENSP00000298552.3:p.Leu714His
ENST00000440111.6:c.2141T>A	ENSP00000394524.2:p.Leu714His
ENST00000545250.5:c.1988T>A	ENSP00000444017.1:p.Leu663His
NM_000368.4:c.2141T>A , LRG_486t1:c.2141T>A	NP_000359.1:p.Leu714His
NM_001162426.1:c.2138T>A	NP_001155898.1:p.Leu713His
NM_001162427.1:c.1988T>A	NP_001155899.1:p.Leu663His
XM_005272211.1:c.2141T>A	XP_005272268.1:p.Leu714His
XM_006717271.1:c.2141T>A	XP_006717334.1:p.Leu714His
XM_011518979.1:c.2141T>A	XP_011517281.1:p.Leu714His
NM_001362177.1:c.1778T>A	NP_001349106.1:p.Leu593His
XM_011518979.2:c.2141T>A	XP_011517281.1:p.Leu714His
XM_017015096.1:c.2141T>A	XP_016870585.1:p.Leu714His
XM_017015097.1:c.2141T>A	XP_016870586.1:p.Leu714His
XM_017015098.1:c.2138T>A	XP_016870587.1:p.Leu713His
XM_017015100.1:c.1778T>A	XP_016870589.1:p.Leu593His
XM_017015101.1:c.1775T>A	XP_016870590.1:p.Leu592His
NM_000368.5:c.2141T>A MANE Select	NP_000359.1:p.Leu714His
NM_001162426.2:c.2138T>A	NP_001155898.1:p.Leu713His
NM_001162427.2:c.1988T>A	NP_001155899.1:p.Leu663His
NM_001362177.2:c.1778T>A	NP_001349106.1:p.Leu593His