Canonical Allele Identifier: CA034047

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897600A>G , CM000671.2:g.132897600A>G	GRCh38
NC_000009.11:g.135772987A>G , CM000671.1:g.135772987A>G	GRCh37
NC_000009.10:g.134762808A>G	NCBI36
NG_012386.1:g.52034T>C , LRG_486:g.52034T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2636T>C MANE Select	NP_000359.1:p.Met879Thr
ENST00000298552.9:c.2636T>C MANE Select	ENSP00000298552.3:p.Met879Thr
NM_000368.4:c.2636T>C , LRG_486t1:c.2636T>C	NP_000359.1:p.Met879Thr
NM_001162426.1:c.2633T>C	NP_001155898.1:p.Met878Thr
NM_001162426.2:c.2633T>C	NP_001155898.1:p.Met878Thr
NM_001162427.1:c.2483T>C	NP_001155899.1:p.Met828Thr
NM_001162427.2:c.2483T>C	NP_001155899.1:p.Met828Thr
NM_001362177.1:c.2273T>C	NP_001349106.1:p.Met758Thr
NM_001362177.2:c.2273T>C	NP_001349106.1:p.Met758Thr
ENST00000298552.7:c.2636T>C	ENSP00000298552.3:p.Met879Thr
ENST00000440111.6:c.2636T>C	ENSP00000394524.2:p.Met879Thr
ENST00000475903.7:c.2633T>C	ENSP00000496126.2:p.Met878Thr
ENST00000490179.4:c.2636T>C	ENSP00000495533.2:p.Met879Thr
ENST00000545250.5:c.2483T>C	ENSP00000444017.1:p.Met828Thr
ENST00000642261.1:c.696T>C
ENST00000642261.2:c.*415T>C	ENSP00000494743.2:n.*415T>C
ENST00000642617.1:c.2633T>C	ENSP00000493773.1:p.Met878Thr
ENST00000642627.1:c.2618T>C	ENSP00000496772.1:p.Met873Thr
ENST00000642811.1:c.*2406T>C	ENSP00000495554.1:n.*2406T>C
ENST00000643072.1:c.2483T>C	ENSP00000496691.1:p.Met828Thr
ENST00000643275.1:c.1110T>C	ENSP00000495598.1:n.1110T>C
ENST00000643275.2:c.*576T>C	ENSP00000495598.2:n.*576T>C
ENST00000643362.2:c.2249T>C	ENSP00000496398.2:p.Met750Thr
ENST00000643583.1:c.2621T>C	ENSP00000494685.1:p.Met874Thr
ENST00000643625.1:c.513T>C	ENSP00000495546.1:n.513T>C
ENST00000643625.2:c.*378T>C	ENSP00000495546.2:n.*378T>C
ENST00000643691.2:c.2273T>C	ENSP00000494916.2:p.Met758Thr
ENST00000643875.1:c.2636T>C	ENSP00000495158.1:p.Met879Thr
ENST00000644097.1:c.2633T>C	ENSP00000494682.1:p.Met878Thr
ENST00000644184.1:c.1331T>C	ENSP00000495428.1:p.Met444Thr
ENST00000644184.2:c.2594T>C	ENSP00000495428.2:p.Met865Thr
ENST00000644255.1:c.*2403T>C	ENSP00000493608.1:n.*2403T>C
ENST00000644319.1:n.3011T>C
ENST00000644786.1:n.295T>C
ENST00000644882.1:n.1549T>C
ENST00000645129.2:c.2480T>C	ENSP00000493639.2:p.Met827Thr
ENST00000645901.1:n.3487T>C
ENST00000646391.1:c.*2406T>C	ENSP00000494104.1:n.*2406T>C
ENST00000646440.2:c.2636T>C	ENSP00000495830.2:p.Met879Thr
ENST00000646625.1:c.2636T>C	ENSP00000496263.1:p.Met879Thr
ENST00000647262.1:n.1601T>C
ENST00000647279.1:c.*1875T>C	ENSP00000494502.1:n.*1875T>C
ENST00000647534.1:n.1700T>C
XM_005272211.1:c.2636T>C	XP_005272268.1:p.Met879Thr
XM_006717271.1:c.2636T>C	XP_006717334.1:p.Met879Thr
XM_011518979.1:c.2636T>C	XP_011517281.1:p.Met879Thr
XM_011518979.2:c.2636T>C	XP_011517281.1:p.Met879Thr
XM_017015096.1:c.2636T>C	XP_016870585.1:p.Met879Thr
XM_017015097.1:c.2636T>C	XP_016870586.1:p.Met879Thr
XM_017015098.1:c.2633T>C	XP_016870587.1:p.Met878Thr
XM_017015100.1:c.2273T>C	XP_016870589.1:p.Met758Thr
XM_017015101.1:c.2270T>C	XP_016870590.1:p.Met757Thr