Canonical Allele Identifier: CA375366224

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2866133
• ClinVar RCV Id: RCV003614962
• dbSNP Id: rs2131883064
• MyVariant Identifiers: chr9:g.135782754C>T (hg19) ; chr9:g.132907367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907367C>T , CM000671.2:g.132907367C>T	GRCh38
NC_000009.11:g.135782754C>T , CM000671.1:g.135782754C>T	GRCh37
NC_000009.10:g.134772575C>T	NCBI36
NG_012386.1:g.42267G>A , LRG_486:g.42267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1264G>A	ENSP00000496126.2:p.Glu422Lys
ENST00000490179.4:c.1267G>A	ENSP00000495533.2:p.Glu423Lys
ENST00000642261.2:c.1267G>A	ENSP00000494743.2:p.Glu423Lys
ENST00000643275.2:c.1267G>A	ENSP00000495598.2:p.Glu423Lys
ENST00000643362.2:c.880G>A	ENSP00000496398.2:p.Glu294Lys
ENST00000643625.2:c.1267G>A	ENSP00000495546.2:p.Glu423Lys
ENST00000643691.2:c.904G>A	ENSP00000494916.2:p.Glu302Lys
ENST00000644184.2:c.1267G>A	ENSP00000495428.2:p.Glu423Lys
ENST00000645129.2:c.1111G>A	ENSP00000493639.2:p.Glu371Lys
ENST00000646440.2:c.1267G>A	ENSP00000495830.2:p.Glu423Lys
ENST00000298552.9:c.1267G>A MANE Select	ENSP00000298552.3:p.Glu423Lys
ENST00000642344.1:c.*1008G>A	ENSP00000494847.1:n.*1008G>A
ENST00000642617.1:c.1264G>A	ENSP00000493773.1:p.Glu422Lys
ENST00000642627.1:c.1264G>A	ENSP00000496772.1:p.Glu422Lys
ENST00000642811.1:c.*1037G>A	ENSP00000495554.1:n.*1037G>A
ENST00000643072.1:c.1114G>A	ENSP00000496691.1:p.Glu372Lys
ENST00000643362.1:c.880G>A	ENSP00000496398.1:p.Glu294Lys
ENST00000643583.1:c.1267G>A	ENSP00000494685.1:p.Glu423Lys
ENST00000643875.1:c.1267G>A	ENSP00000495158.1:p.Glu423Lys
ENST00000644097.1:c.1264G>A	ENSP00000494682.1:p.Glu422Lys
ENST00000644184.1:c.4G>A	ENSP00000495428.1:p.Glu2Lys
ENST00000644255.1:c.*1034G>A	ENSP00000493608.1:n.*1034G>A
ENST00000644319.1:n.1642G>A
ENST00000645901.1:n.2118G>A
ENST00000646391.1:c.*1037G>A	ENSP00000494104.1:n.*1037G>A
ENST00000646625.1:c.1267G>A	ENSP00000496263.1:p.Glu423Lys
ENST00000647279.1:c.*506G>A	ENSP00000494502.1:n.*506G>A
ENST00000647506.1:n.2143G>A
ENST00000647534.1:n.331G>A
ENST00000298552.7:c.1267G>A	ENSP00000298552.3:p.Glu423Lys
ENST00000440111.6:c.1267G>A	ENSP00000394524.2:p.Glu423Lys
ENST00000545250.5:c.1114G>A	ENSP00000444017.1:p.Glu372Lys
NM_000368.4:c.1267G>A , LRG_486t1:c.1267G>A	NP_000359.1:p.Glu423Lys
NM_001162426.1:c.1264G>A	NP_001155898.1:p.Glu422Lys
NM_001162427.1:c.1114G>A	NP_001155899.1:p.Glu372Lys
XM_005272211.1:c.1267G>A	XP_005272268.1:p.Glu423Lys
XM_006717271.1:c.1267G>A	XP_006717334.1:p.Glu423Lys
XM_006717272.2:c.1267G>A	XP_006717335.1:p.Glu423Lys
XM_011518979.1:c.1267G>A	XP_011517281.1:p.Glu423Lys
NM_001362177.1:c.904G>A	NP_001349106.1:p.Glu302Lys
XM_011518979.2:c.1267G>A	XP_011517281.1:p.Glu423Lys
XM_017015096.1:c.1267G>A	XP_016870585.1:p.Glu423Lys
XM_017015097.1:c.1267G>A	XP_016870586.1:p.Glu423Lys
XM_017015098.1:c.1264G>A	XP_016870587.1:p.Glu422Lys
XM_017015100.1:c.904G>A	XP_016870589.1:p.Glu302Lys
XM_017015101.1:c.901G>A	XP_016870590.1:p.Glu301Lys
NM_000368.5:c.1267G>A MANE Select	NP_000359.1:p.Glu423Lys
NM_001162426.2:c.1264G>A	NP_001155898.1:p.Glu422Lys
NM_001162427.2:c.1114G>A	NP_001155899.1:p.Glu372Lys
NM_001362177.2:c.904G>A	NP_001349106.1:p.Glu302Lys