Canonical Allele Identifier: CA375369981

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776139A>G (hg19) ; chr9:g.132900752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900752A>G , CM000671.2:g.132900752A>G	GRCh38
NC_000009.11:g.135776139A>G , CM000671.1:g.135776139A>G	GRCh37
NC_000009.10:g.134765960A>G	NCBI36
NG_012386.1:g.48882T>C , LRG_486:g.48882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2585T>C	ENSP00000496126.2:p.Leu862Ser
ENST00000490179.4:c.2588T>C	ENSP00000495533.2:p.Leu863Ser
ENST00000642261.2:c.*367T>C	ENSP00000494743.2:n.*367T>C
ENST00000643275.2:c.*528T>C	ENSP00000495598.2:n.*528T>C
ENST00000643362.2:c.2201T>C	ENSP00000496398.2:p.Leu734Ser
ENST00000643625.2:c.*330T>C	ENSP00000495546.2:n.*330T>C
ENST00000643691.2:c.2225T>C	ENSP00000494916.2:p.Leu742Ser
ENST00000644184.2:c.2546T>C	ENSP00000495428.2:p.Leu849Ser
ENST00000645129.2:c.2432T>C	ENSP00000493639.2:p.Leu811Ser
ENST00000646440.2:c.2588T>C	ENSP00000495830.2:p.Leu863Ser
ENST00000298552.9:c.2588T>C MANE Select	ENSP00000298552.3:p.Leu863Ser
ENST00000642261.1:c.648T>C
ENST00000642617.1:c.2585T>C	ENSP00000493773.1:p.Leu862Ser
ENST00000642627.1:c.2570T>C	ENSP00000496772.1:p.Leu857Ser
ENST00000642811.1:c.*2358T>C	ENSP00000495554.1:n.*2358T>C
ENST00000643072.1:c.2435T>C	ENSP00000496691.1:p.Leu812Ser
ENST00000643275.1:c.1062T>C	ENSP00000495598.1:n.1062T>C
ENST00000643583.1:c.2573T>C	ENSP00000494685.1:p.Leu858Ser
ENST00000643625.1:c.465T>C	ENSP00000495546.1:n.465T>C
ENST00000643875.1:c.2588T>C	ENSP00000495158.1:p.Leu863Ser
ENST00000644097.1:c.2585T>C	ENSP00000494682.1:p.Leu862Ser
ENST00000644184.1:c.1283T>C	ENSP00000495428.1:p.Leu428Ser
ENST00000644255.1:c.*2355T>C	ENSP00000493608.1:n.*2355T>C
ENST00000644319.1:n.2963T>C
ENST00000644786.1:n.247T>C
ENST00000644882.1:n.1501T>C
ENST00000645901.1:n.3439T>C
ENST00000646391.1:c.*2358T>C	ENSP00000494104.1:n.*2358T>C
ENST00000646625.1:c.2588T>C	ENSP00000496263.1:p.Leu863Ser
ENST00000647262.1:n.1553T>C
ENST00000647279.1:c.*1827T>C	ENSP00000494502.1:n.*1827T>C
ENST00000647506.1:n.3464T>C
ENST00000647534.1:n.1652T>C
ENST00000298552.7:c.2588T>C	ENSP00000298552.3:p.Leu863Ser
ENST00000440111.6:c.2588T>C	ENSP00000394524.2:p.Leu863Ser
ENST00000545250.5:c.2435T>C	ENSP00000444017.1:p.Leu812Ser
NM_000368.4:c.2588T>C , LRG_486t1:c.2588T>C	NP_000359.1:p.Leu863Ser
NM_001162426.1:c.2585T>C	NP_001155898.1:p.Leu862Ser
NM_001162427.1:c.2435T>C	NP_001155899.1:p.Leu812Ser
XM_005272211.1:c.2588T>C	XP_005272268.1:p.Leu863Ser
XM_006717271.1:c.2588T>C	XP_006717334.1:p.Leu863Ser
XM_011518979.1:c.2588T>C	XP_011517281.1:p.Leu863Ser
NM_001362177.1:c.2225T>C	NP_001349106.1:p.Leu742Ser
XM_011518979.2:c.2588T>C	XP_011517281.1:p.Leu863Ser
XM_017015096.1:c.2588T>C	XP_016870585.1:p.Leu863Ser
XM_017015097.1:c.2588T>C	XP_016870586.1:p.Leu863Ser
XM_017015098.1:c.2585T>C	XP_016870587.1:p.Leu862Ser
XM_017015100.1:c.2225T>C	XP_016870589.1:p.Leu742Ser
XM_017015101.1:c.2222T>C	XP_016870590.1:p.Leu741Ser
NM_000368.5:c.2588T>C MANE Select	NP_000359.1:p.Leu863Ser
NM_001162426.2:c.2585T>C	NP_001155898.1:p.Leu862Ser
NM_001162427.2:c.2435T>C	NP_001155899.1:p.Leu812Ser
NM_001362177.2:c.2225T>C	NP_001349106.1:p.Leu742Ser