Canonical Allele Identifier: CA375369917

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776125T>G (hg19) ; chr9:g.132900738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900738T>G , CM000671.2:g.132900738T>G	GRCh38
NC_000009.11:g.135776125T>G , CM000671.1:g.135776125T>G	GRCh37
NC_000009.10:g.134765946T>G	NCBI36
NG_012386.1:g.48896A>C , LRG_486:g.48896A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2599A>C	ENSP00000496126.2:p.Asn867His
ENST00000490179.4:c.2602A>C	ENSP00000495533.2:p.Asn868His
ENST00000642261.2:c.*381A>C	ENSP00000494743.2:n.*381A>C
ENST00000643275.2:c.*542A>C	ENSP00000495598.2:n.*542A>C
ENST00000643362.2:c.2215A>C	ENSP00000496398.2:p.Asn739His
ENST00000643625.2:c.*344A>C	ENSP00000495546.2:n.*344A>C
ENST00000643691.2:c.2239A>C	ENSP00000494916.2:p.Asn747His
ENST00000644184.2:c.2560A>C	ENSP00000495428.2:p.Asn854His
ENST00000645129.2:c.2446A>C	ENSP00000493639.2:p.Asn816His
ENST00000646440.2:c.2602A>C	ENSP00000495830.2:p.Asn868His
ENST00000298552.9:c.2602A>C MANE Select	ENSP00000298552.3:p.Asn868His
ENST00000642261.1:c.662A>C
ENST00000642617.1:c.2599A>C	ENSP00000493773.1:p.Asn867His
ENST00000642627.1:c.2584A>C	ENSP00000496772.1:p.Asn862His
ENST00000642811.1:c.*2372A>C	ENSP00000495554.1:n.*2372A>C
ENST00000643072.1:c.2449A>C	ENSP00000496691.1:p.Asn817His
ENST00000643275.1:c.1076A>C	ENSP00000495598.1:n.1076A>C
ENST00000643583.1:c.2587A>C	ENSP00000494685.1:p.Asn863His
ENST00000643625.1:c.479A>C	ENSP00000495546.1:n.479A>C
ENST00000643875.1:c.2602A>C	ENSP00000495158.1:p.Asn868His
ENST00000644097.1:c.2599A>C	ENSP00000494682.1:p.Asn867His
ENST00000644184.1:c.1297A>C	ENSP00000495428.1:p.Asn433His
ENST00000644255.1:c.*2369A>C	ENSP00000493608.1:n.*2369A>C
ENST00000644319.1:n.2977A>C
ENST00000644786.1:n.261A>C
ENST00000644882.1:n.1515A>C
ENST00000645901.1:n.3453A>C
ENST00000646391.1:c.*2372A>C	ENSP00000494104.1:n.*2372A>C
ENST00000646625.1:c.2602A>C	ENSP00000496263.1:p.Asn868His
ENST00000647262.1:n.1567A>C
ENST00000647279.1:c.*1841A>C	ENSP00000494502.1:n.*1841A>C
ENST00000647506.1:n.3478A>C
ENST00000647534.1:n.1666A>C
ENST00000298552.7:c.2602A>C	ENSP00000298552.3:p.Asn868His
ENST00000440111.6:c.2602A>C	ENSP00000394524.2:p.Asn868His
ENST00000545250.5:c.2449A>C	ENSP00000444017.1:p.Asn817His
NM_000368.4:c.2602A>C , LRG_486t1:c.2602A>C	NP_000359.1:p.Asn868His
NM_001162426.1:c.2599A>C	NP_001155898.1:p.Asn867His
NM_001162427.1:c.2449A>C	NP_001155899.1:p.Asn817His
XM_005272211.1:c.2602A>C	XP_005272268.1:p.Asn868His
XM_006717271.1:c.2602A>C	XP_006717334.1:p.Asn868His
XM_011518979.1:c.2602A>C	XP_011517281.1:p.Asn868His
NM_001362177.1:c.2239A>C	NP_001349106.1:p.Asn747His
XM_011518979.2:c.2602A>C	XP_011517281.1:p.Asn868His
XM_017015096.1:c.2602A>C	XP_016870585.1:p.Asn868His
XM_017015097.1:c.2602A>C	XP_016870586.1:p.Asn868His
XM_017015098.1:c.2599A>C	XP_016870587.1:p.Asn867His
XM_017015100.1:c.2239A>C	XP_016870589.1:p.Asn747His
XM_017015101.1:c.2236A>C	XP_016870590.1:p.Asn746His
NM_000368.5:c.2602A>C MANE Select	NP_000359.1:p.Asn868His
NM_001162426.2:c.2599A>C	NP_001155898.1:p.Asn867His
NM_001162427.2:c.2449A>C	NP_001155899.1:p.Asn817His
NM_001362177.2:c.2239A>C	NP_001349106.1:p.Asn747His