Canonical Allele Identifier: CA006322

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48941
• ClinVar RCV Id: RCV000042192 ; RCV000473593 ; RCV002054843 ; RCV002426584
• dbSNP Id: rs118203680
• MyVariant Identifiers: chr9:g.135778042G>A (hg19) ; chr9:g.132902655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902655G>A , CM000671.2:g.132902655G>A	GRCh38
NC_000009.11:g.135778042G>A , CM000671.1:g.135778042G>A	GRCh37
NC_000009.10:g.134767863G>A	NCBI36
NG_012386.1:g.46979C>T , LRG_486:g.46979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2338C>T	ENSP00000496126.2:p.Gln780Ter
ENST00000490179.4:c.2341C>T	ENSP00000495533.2:p.Gln781Ter
ENST00000642261.2:c.*120C>T	ENSP00000494743.2:n.*120C>T
ENST00000643275.2:c.*281C>T	ENSP00000495598.2:n.*281C>T
ENST00000643362.2:c.1954C>T	ENSP00000496398.2:p.Gln652Ter
ENST00000643625.2:c.*83C>T	ENSP00000495546.2:n.*83C>T
ENST00000643691.2:c.1978C>T	ENSP00000494916.2:p.Gln660Ter
ENST00000644184.2:c.2341C>T	ENSP00000495428.2:p.Gln781Ter
ENST00000645129.2:c.2185C>T	ENSP00000493639.2:p.Gln729Ter
ENST00000646440.2:c.2341C>T	ENSP00000495830.2:p.Gln781Ter
ENST00000298552.9:c.2341C>T MANE Select	ENSP00000298552.3:p.Gln781Ter
ENST00000642261.1:c.401C>T
ENST00000642617.1:c.2338C>T	ENSP00000493773.1:p.Gln780Ter
ENST00000642627.1:c.2323C>T	ENSP00000496772.1:p.Gln775Ter
ENST00000642811.1:c.*2111C>T	ENSP00000495554.1:n.*2111C>T
ENST00000643072.1:c.2188C>T	ENSP00000496691.1:p.Gln730Ter
ENST00000643275.1:c.815C>T	ENSP00000495598.1:n.815C>T
ENST00000643583.1:c.2326C>T	ENSP00000494685.1:p.Gln776Ter
ENST00000643625.1:c.218C>T	ENSP00000495546.1:n.218C>T
ENST00000643875.1:c.2341C>T	ENSP00000495158.1:p.Gln781Ter
ENST00000644097.1:c.2338C>T	ENSP00000494682.1:p.Gln780Ter
ENST00000644184.1:c.1078C>T	ENSP00000495428.1:p.Gln360Ter
ENST00000644255.1:c.*2108C>T	ENSP00000493608.1:n.*2108C>T
ENST00000644319.1:n.2716C>T
ENST00000644882.1:n.1296C>T
ENST00000645901.1:n.3192C>T
ENST00000646391.1:c.*2111C>T	ENSP00000494104.1:n.*2111C>T
ENST00000646625.1:c.2341C>T	ENSP00000496263.1:p.Gln781Ter
ENST00000647262.1:n.1306C>T
ENST00000647279.1:c.*1580C>T	ENSP00000494502.1:n.*1580C>T
ENST00000647506.1:n.3217C>T
ENST00000647534.1:n.1405C>T
ENST00000298552.7:c.2341C>T	ENSP00000298552.3:p.Gln781Ter
ENST00000440111.6:c.2341C>T	ENSP00000394524.2:p.Gln781Ter
ENST00000545250.5:c.2188C>T	ENSP00000444017.1:p.Gln730Ter
NM_000368.4:c.2341C>T , LRG_486t1:c.2341C>T	NP_000359.1:p.Gln781Ter
NM_001162426.1:c.2338C>T	NP_001155898.1:p.Gln780Ter
NM_001162427.1:c.2188C>T	NP_001155899.1:p.Gln730Ter
XM_005272211.1:c.2341C>T	XP_005272268.1:p.Gln781Ter
XM_006717271.1:c.2341C>T	XP_006717334.1:p.Gln781Ter
XM_011518979.1:c.2341C>T	XP_011517281.1:p.Gln781Ter
NM_001362177.1:c.1978C>T	NP_001349106.1:p.Gln660Ter
XM_011518979.2:c.2341C>T	XP_011517281.1:p.Gln781Ter
XM_017015096.1:c.2341C>T	XP_016870585.1:p.Gln781Ter
XM_017015097.1:c.2341C>T	XP_016870586.1:p.Gln781Ter
XM_017015098.1:c.2338C>T	XP_016870587.1:p.Gln780Ter
XM_017015100.1:c.1978C>T	XP_016870589.1:p.Gln660Ter
XM_017015101.1:c.1975C>T	XP_016870590.1:p.Gln659Ter
NM_000368.5:c.2341C>T MANE Select	NP_000359.1:p.Gln781Ter
NM_001162426.2:c.2338C>T	NP_001155898.1:p.Gln780Ter
NM_001162427.2:c.2188C>T	NP_001155899.1:p.Gln730Ter
NM_001362177.2:c.1978C>T	NP_001349106.1:p.Gln660Ter