Canonical Allele Identifier: CA375368431

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897226A>G , CM000671.2:g.132897226A>G	GRCh38
NC_000009.11:g.135772613A>G , CM000671.1:g.135772613A>G	GRCh37
NC_000009.10:g.134762434A>G	NCBI36
NG_012386.1:g.52408T>C , LRG_486:g.52408T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2933T>C MANE Select	NP_000359.1:p.Leu978Pro
ENST00000298552.9:c.2933T>C MANE Select	ENSP00000298552.3:p.Leu978Pro
NM_000368.4:c.2933T>C , LRG_486t1:c.2933T>C	NP_000359.1:p.Leu978Pro
NM_001162426.1:c.2930T>C	NP_001155898.1:p.Leu977Pro
NM_001162426.2:c.2930T>C	NP_001155898.1:p.Leu977Pro
NM_001162427.1:c.2780T>C	NP_001155899.1:p.Leu927Pro
NM_001162427.2:c.2780T>C	NP_001155899.1:p.Leu927Pro
NM_001362177.1:c.2570T>C	NP_001349106.1:p.Leu857Pro
NM_001362177.2:c.2570T>C	NP_001349106.1:p.Leu857Pro
ENST00000298552.7:c.2933T>C	ENSP00000298552.3:p.Leu978Pro
ENST00000440111.6:c.2933T>C	ENSP00000394524.2:p.Leu978Pro
ENST00000475903.7:c.2930T>C	ENSP00000496126.2:p.Leu977Pro
ENST00000490179.4:c.2933T>C	ENSP00000495533.2:p.Leu978Pro
ENST00000545250.5:c.2780T>C	ENSP00000444017.1:p.Leu927Pro
ENST00000642261.1:c.1070T>C
ENST00000642261.2:c.*789T>C	ENSP00000494743.2:n.*789T>C
ENST00000642617.1:c.2930T>C	ENSP00000493773.1:p.Leu977Pro
ENST00000642627.1:c.2915T>C	ENSP00000496772.1:p.Leu972Pro
ENST00000642811.1:c.*2703T>C	ENSP00000495554.1:n.*2703T>C
ENST00000643072.1:c.2780T>C	ENSP00000496691.1:p.Leu927Pro
ENST00000643275.1:c.1407T>C	ENSP00000495598.1:n.1407T>C
ENST00000643275.2:c.*873T>C	ENSP00000495598.2:n.*873T>C
ENST00000643362.2:c.2546T>C	ENSP00000496398.2:p.Leu849Pro
ENST00000643583.1:c.2918T>C	ENSP00000494685.1:p.Leu973Pro
ENST00000643625.1:c.810T>C	ENSP00000495546.1:n.810T>C
ENST00000643625.2:c.*675T>C	ENSP00000495546.2:n.*675T>C
ENST00000643691.2:c.2570T>C	ENSP00000494916.2:p.Leu857Pro
ENST00000643875.1:c.2933T>C	ENSP00000495158.1:p.Leu978Pro
ENST00000644097.1:c.2930T>C	ENSP00000494682.1:p.Leu977Pro
ENST00000644184.1:c.1628T>C	ENSP00000495428.1:p.Leu543Pro
ENST00000644184.2:c.2891T>C	ENSP00000495428.2:p.Leu964Pro
ENST00000644255.1:c.*2700T>C	ENSP00000493608.1:n.*2700T>C
ENST00000644319.1:n.3308T>C
ENST00000644786.1:n.592T>C
ENST00000644882.1:n.1841T>C
ENST00000645129.2:c.2777T>C	ENSP00000493639.2:p.Leu926Pro
ENST00000645901.1:n.3784T>C
ENST00000646391.1:c.*2703T>C	ENSP00000494104.1:n.*2703T>C
ENST00000646440.2:c.2933T>C	ENSP00000495830.2:p.Leu978Pro
ENST00000646625.1:c.2933T>C	ENSP00000496263.1:p.Leu978Pro
ENST00000647262.1:n.1898T>C
ENST00000647279.1:c.*2172T>C	ENSP00000494502.1:n.*2172T>C
ENST00000647534.1:n.1997T>C
XM_005272211.1:c.2933T>C	XP_005272268.1:p.Leu978Pro
XM_006717271.1:c.2933T>C	XP_006717334.1:p.Leu978Pro
XM_011518979.1:c.2933T>C	XP_011517281.1:p.Leu978Pro
XM_011518979.2:c.2933T>C	XP_011517281.1:p.Leu978Pro
XM_017015096.1:c.2933T>C	XP_016870585.1:p.Leu978Pro
XM_017015097.1:c.2933T>C	XP_016870586.1:p.Leu978Pro
XM_017015098.1:c.2930T>C	XP_016870587.1:p.Leu977Pro
XM_017015100.1:c.2570T>C	XP_016870589.1:p.Leu857Pro
XM_017015101.1:c.2567T>C	XP_016870590.1:p.Leu856Pro