Canonical Allele Identifier: CA375369958

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776133T>G (hg19) ; chr9:g.132900746T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900746T>G , CM000671.2:g.132900746T>G	GRCh38
NC_000009.11:g.135776133T>G , CM000671.1:g.135776133T>G	GRCh37
NC_000009.10:g.134765954T>G	NCBI36
NG_012386.1:g.48888A>C , LRG_486:g.48888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2591A>C	ENSP00000496126.2:p.Gln864Pro
ENST00000490179.4:c.2594A>C	ENSP00000495533.2:p.Gln865Pro
ENST00000642261.2:c.*373A>C	ENSP00000494743.2:n.*373A>C
ENST00000643275.2:c.*534A>C	ENSP00000495598.2:n.*534A>C
ENST00000643362.2:c.2207A>C	ENSP00000496398.2:p.Gln736Pro
ENST00000643625.2:c.*336A>C	ENSP00000495546.2:n.*336A>C
ENST00000643691.2:c.2231A>C	ENSP00000494916.2:p.Gln744Pro
ENST00000644184.2:c.2552A>C	ENSP00000495428.2:p.Gln851Pro
ENST00000645129.2:c.2438A>C	ENSP00000493639.2:p.Gln813Pro
ENST00000646440.2:c.2594A>C	ENSP00000495830.2:p.Gln865Pro
ENST00000298552.9:c.2594A>C MANE Select	ENSP00000298552.3:p.Gln865Pro
ENST00000642261.1:c.654A>C
ENST00000642617.1:c.2591A>C	ENSP00000493773.1:p.Gln864Pro
ENST00000642627.1:c.2576A>C	ENSP00000496772.1:p.Gln859Pro
ENST00000642811.1:c.*2364A>C	ENSP00000495554.1:n.*2364A>C
ENST00000643072.1:c.2441A>C	ENSP00000496691.1:p.Gln814Pro
ENST00000643275.1:c.1068A>C	ENSP00000495598.1:n.1068A>C
ENST00000643583.1:c.2579A>C	ENSP00000494685.1:p.Gln860Pro
ENST00000643625.1:c.471A>C	ENSP00000495546.1:n.471A>C
ENST00000643875.1:c.2594A>C	ENSP00000495158.1:p.Gln865Pro
ENST00000644097.1:c.2591A>C	ENSP00000494682.1:p.Gln864Pro
ENST00000644184.1:c.1289A>C	ENSP00000495428.1:p.Gln430Pro
ENST00000644255.1:c.*2361A>C	ENSP00000493608.1:n.*2361A>C
ENST00000644319.1:n.2969A>C
ENST00000644786.1:n.253A>C
ENST00000644882.1:n.1507A>C
ENST00000645901.1:n.3445A>C
ENST00000646391.1:c.*2364A>C	ENSP00000494104.1:n.*2364A>C
ENST00000646625.1:c.2594A>C	ENSP00000496263.1:p.Gln865Pro
ENST00000647262.1:n.1559A>C
ENST00000647279.1:c.*1833A>C	ENSP00000494502.1:n.*1833A>C
ENST00000647506.1:n.3470A>C
ENST00000647534.1:n.1658A>C
ENST00000298552.7:c.2594A>C	ENSP00000298552.3:p.Gln865Pro
ENST00000440111.6:c.2594A>C	ENSP00000394524.2:p.Gln865Pro
ENST00000545250.5:c.2441A>C	ENSP00000444017.1:p.Gln814Pro
NM_000368.4:c.2594A>C , LRG_486t1:c.2594A>C	NP_000359.1:p.Gln865Pro
NM_001162426.1:c.2591A>C	NP_001155898.1:p.Gln864Pro
NM_001162427.1:c.2441A>C	NP_001155899.1:p.Gln814Pro
XM_005272211.1:c.2594A>C	XP_005272268.1:p.Gln865Pro
XM_006717271.1:c.2594A>C	XP_006717334.1:p.Gln865Pro
XM_011518979.1:c.2594A>C	XP_011517281.1:p.Gln865Pro
NM_001362177.1:c.2231A>C	NP_001349106.1:p.Gln744Pro
XM_011518979.2:c.2594A>C	XP_011517281.1:p.Gln865Pro
XM_017015096.1:c.2594A>C	XP_016870585.1:p.Gln865Pro
XM_017015097.1:c.2594A>C	XP_016870586.1:p.Gln865Pro
XM_017015098.1:c.2591A>C	XP_016870587.1:p.Gln864Pro
XM_017015100.1:c.2231A>C	XP_016870589.1:p.Gln744Pro
XM_017015101.1:c.2228A>C	XP_016870590.1:p.Gln743Pro
NM_000368.5:c.2594A>C MANE Select	NP_000359.1:p.Gln865Pro
NM_001162426.2:c.2591A>C	NP_001155898.1:p.Gln864Pro
NM_001162427.2:c.2441A>C	NP_001155899.1:p.Gln814Pro
NM_001362177.2:c.2231A>C	NP_001349106.1:p.Gln744Pro