Canonical Allele Identifier: CA034018
Community Standard Title: NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132897610C>A , CM000671.2:g.132897610C>A GRCh38
NC_000009.11:g.135772997C>A , CM000671.1:g.135772997C>A GRCh37
NC_000009.10:g.134762818C>A NCBI36
NG_012386.1:g.52024G>T , LRG_486:g.52024G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2626G>T MANE Select NP_000359.1:p.Glu876Ter
ENST00000298552.9:c.2626G>T MANE Select ENSP00000298552.3:p.Glu876Ter
NM_000368.4:c.2626G>T , LRG_486t1:c.2626G>T NP_000359.1:p.Glu876Ter
NM_001162426.1:c.2623G>T NP_001155898.1:p.Glu875Ter
NM_001162426.2:c.2623G>T NP_001155898.1:p.Glu875Ter
NM_001162427.1:c.2473G>T NP_001155899.1:p.Glu825Ter
NM_001162427.2:c.2473G>T NP_001155899.1:p.Glu825Ter
NM_001362177.1:c.2263G>T NP_001349106.1:p.Glu755Ter
NM_001362177.2:c.2263G>T NP_001349106.1:p.Glu755Ter
ENST00000298552.7:c.2626G>T ENSP00000298552.3:p.Glu876Ter
ENST00000440111.6:c.2626G>T ENSP00000394524.2:p.Glu876Ter
ENST00000475903.7:c.2623G>T ENSP00000496126.2:p.Glu875Ter
ENST00000490179.4:c.2626G>T ENSP00000495533.2:p.Glu876Ter
ENST00000545250.5:c.2473G>T ENSP00000444017.1:p.Glu825Ter
ENST00000642261.1:c.686G>T
ENST00000642261.2:c.*405G>T ENSP00000494743.2:n.*405G>T
ENST00000642617.1:c.2623G>T ENSP00000493773.1:p.Glu875Ter
ENST00000642627.1:c.2608G>T ENSP00000496772.1:p.Glu870Ter
ENST00000642811.1:c.*2396G>T ENSP00000495554.1:n.*2396G>T
ENST00000643072.1:c.2473G>T ENSP00000496691.1:p.Glu825Ter
ENST00000643275.1:c.1100G>T ENSP00000495598.1:n.1100G>T
ENST00000643275.2:c.*566G>T ENSP00000495598.2:n.*566G>T
ENST00000643362.2:c.2239G>T ENSP00000496398.2:p.Glu747Ter
ENST00000643583.1:c.2611G>T ENSP00000494685.1:p.Glu871Ter
ENST00000643625.1:c.503G>T ENSP00000495546.1:n.503G>T
ENST00000643625.2:c.*368G>T ENSP00000495546.2:n.*368G>T
ENST00000643691.2:c.2263G>T ENSP00000494916.2:p.Glu755Ter
ENST00000643875.1:c.2626G>T ENSP00000495158.1:p.Glu876Ter
ENST00000644097.1:c.2623G>T ENSP00000494682.1:p.Glu875Ter
ENST00000644184.1:c.1321G>T ENSP00000495428.1:p.Glu441Ter
ENST00000644184.2:c.2584G>T ENSP00000495428.2:p.Glu862Ter
ENST00000644255.1:c.*2393G>T ENSP00000493608.1:n.*2393G>T
ENST00000644319.1:n.3001G>T
ENST00000644786.1:n.285G>T
ENST00000644882.1:n.1539G>T
ENST00000645129.2:c.2470G>T ENSP00000493639.2:p.Glu824Ter
ENST00000645901.1:n.3477G>T
ENST00000646391.1:c.*2396G>T ENSP00000494104.1:n.*2396G>T
ENST00000646440.2:c.2626G>T ENSP00000495830.2:p.Glu876Ter
ENST00000646625.1:c.2626G>T ENSP00000496263.1:p.Glu876Ter
ENST00000647262.1:n.1591G>T
ENST00000647279.1:c.*1865G>T ENSP00000494502.1:n.*1865G>T
ENST00000647534.1:n.1690G>T
XM_005272211.1:c.2626G>T XP_005272268.1:p.Glu876Ter
XM_006717271.1:c.2626G>T XP_006717334.1:p.Glu876Ter
XM_011518979.1:c.2626G>T XP_011517281.1:p.Glu876Ter
XM_011518979.2:c.2626G>T XP_011517281.1:p.Glu876Ter
XM_017015096.1:c.2626G>T XP_016870585.1:p.Glu876Ter
XM_017015097.1:c.2626G>T XP_016870586.1:p.Glu876Ter
XM_017015098.1:c.2623G>T XP_016870587.1:p.Glu875Ter
XM_017015100.1:c.2263G>T XP_016870589.1:p.Glu755Ter
XM_017015101.1:c.2260G>T XP_016870590.1:p.Glu754Ter