Canonical Allele Identifier: CA375359430
Community Standard Title: NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132902658T>A , CM000671.2:g.132902658T>A GRCh38
NC_000009.11:g.135778045T>A , CM000671.1:g.135778045T>A GRCh37
NC_000009.10:g.134767866T>A NCBI36
NG_012386.1:g.46976A>T , LRG_486:g.46976A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2338A>T MANE Select NP_000359.1:p.Arg780Ter
ENST00000298552.9:c.2338A>T MANE Select ENSP00000298552.3:p.Arg780Ter
NM_000368.4:c.2338A>T , LRG_486t1:c.2338A>T NP_000359.1:p.Arg780Ter
NM_001162426.1:c.2335A>T NP_001155898.1:p.Arg779Ter
NM_001162426.2:c.2335A>T NP_001155898.1:p.Arg779Ter
NM_001162427.1:c.2185A>T NP_001155899.1:p.Arg729Ter
NM_001162427.2:c.2185A>T NP_001155899.1:p.Arg729Ter
NM_001362177.1:c.1975A>T NP_001349106.1:p.Arg659Ter
NM_001362177.2:c.1975A>T NP_001349106.1:p.Arg659Ter
ENST00000298552.7:c.2338A>T ENSP00000298552.3:p.Arg780Ter
ENST00000440111.6:c.2338A>T ENSP00000394524.2:p.Arg780Ter
ENST00000475903.7:c.2335A>T ENSP00000496126.2:p.Arg779Ter
ENST00000490179.4:c.2338A>T ENSP00000495533.2:p.Arg780Ter
ENST00000545250.5:c.2185A>T ENSP00000444017.1:p.Arg729Ter
ENST00000642261.1:c.398A>T
ENST00000642261.2:c.*117A>T ENSP00000494743.2:n.*117A>T
ENST00000642617.1:c.2335A>T ENSP00000493773.1:p.Arg779Ter
ENST00000642627.1:c.2320A>T ENSP00000496772.1:p.Arg774Ter
ENST00000642811.1:c.*2108A>T ENSP00000495554.1:n.*2108A>T
ENST00000643072.1:c.2185A>T ENSP00000496691.1:p.Arg729Ter
ENST00000643275.1:c.812A>T ENSP00000495598.1:n.812A>T
ENST00000643275.2:c.*278A>T ENSP00000495598.2:n.*278A>T
ENST00000643362.2:c.1951A>T ENSP00000496398.2:p.Arg651Ter
ENST00000643583.1:c.2323A>T ENSP00000494685.1:p.Arg775Ter
ENST00000643625.1:c.215A>T ENSP00000495546.1:n.215A>T
ENST00000643625.2:c.*80A>T ENSP00000495546.2:n.*80A>T
ENST00000643691.2:c.1975A>T ENSP00000494916.2:p.Arg659Ter
ENST00000643875.1:c.2338A>T ENSP00000495158.1:p.Arg780Ter
ENST00000644097.1:c.2335A>T ENSP00000494682.1:p.Arg779Ter
ENST00000644184.1:c.1075A>T ENSP00000495428.1:p.Arg359Ter
ENST00000644184.2:c.2338A>T ENSP00000495428.2:p.Arg780Ter
ENST00000644255.1:c.*2105A>T ENSP00000493608.1:n.*2105A>T
ENST00000644319.1:n.2713A>T
ENST00000644882.1:n.1293A>T
ENST00000645129.2:c.2182A>T ENSP00000493639.2:p.Arg728Ter
ENST00000645901.1:n.3189A>T
ENST00000646391.1:c.*2108A>T ENSP00000494104.1:n.*2108A>T
ENST00000646440.2:c.2338A>T ENSP00000495830.2:p.Arg780Ter
ENST00000646625.1:c.2338A>T ENSP00000496263.1:p.Arg780Ter
ENST00000647262.1:n.1303A>T
ENST00000647279.1:c.*1577A>T ENSP00000494502.1:n.*1577A>T
ENST00000647506.1:n.3214A>T
ENST00000647534.1:n.1402A>T
XM_005272211.1:c.2338A>T XP_005272268.1:p.Arg780Ter
XM_006717271.1:c.2338A>T XP_006717334.1:p.Arg780Ter
XM_011518979.1:c.2338A>T XP_011517281.1:p.Arg780Ter
XM_011518979.2:c.2338A>T XP_011517281.1:p.Arg780Ter
XM_017015096.1:c.2338A>T XP_016870585.1:p.Arg780Ter
XM_017015097.1:c.2338A>T XP_016870586.1:p.Arg780Ter
XM_017015098.1:c.2335A>T XP_016870587.1:p.Arg779Ter
XM_017015100.1:c.1975A>T XP_016870589.1:p.Arg659Ter
XM_017015101.1:c.1972A>T XP_016870590.1:p.Arg658Ter