Canonical Allele Identifier: CA262148
Community Standard Title: NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132911025dup , CM000671.2:g.132911025dup GRCh38
NC_000009.11:g.135786412dup , CM000671.1:g.135786412dup GRCh37
NC_000009.10:g.134776233dup NCBI36
NG_012386.1:g.38609dup , LRG_486:g.38609dup

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.1118dup MANE Select NP_000359.1:p.Tyr373Ter
ENST00000298552.9:c.1118dup MANE Select ENSP00000298552.3:p.Tyr373Ter
NM_000368.4:c.1118dup , LRG_486t1:c.1118dup NP_000359.1:p.Tyr373Ter
NM_001162426.1:c.1118dup NP_001155898.1:p.Tyr373Ter
NM_001162426.2:c.1118dup NP_001155898.1:p.Tyr373Ter
NM_001162427.1:c.965dup NP_001155899.1:p.Tyr322Ter
NM_001162427.2:c.965dup NP_001155899.1:p.Tyr322Ter
NM_001362177.1:c.755dup NP_001349106.1:p.Tyr252Ter
NM_001362177.2:c.755dup NP_001349106.1:p.Tyr252Ter
ENST00000298552.7:c.1118dup ENSP00000298552.3:p.Tyr373Ter
ENST00000403810.6:c.*356dup ENSP00000386093.1:n.*356dup
ENST00000440111.6:c.1118dup ENSP00000394524.2:p.Tyr373Ter
ENST00000475903.7:c.1118dup ENSP00000496126.2:p.Tyr373Ter
ENST00000490179.4:c.1118dup ENSP00000495533.2:p.Tyr373Ter
ENST00000493467.5:n.1314dup
ENST00000493467.6:n.392dup
ENST00000545250.5:c.965dup ENSP00000444017.1:p.Tyr322Ter
ENST00000642261.2:c.1118dup ENSP00000494743.2:p.Tyr373Ter
ENST00000642344.1:c.*859dup ENSP00000494847.1:n.*859dup
ENST00000642617.1:c.1118dup ENSP00000493773.1:p.Tyr373Ter
ENST00000642627.1:c.1118dup ENSP00000496772.1:p.Tyr373Ter
ENST00000642646.1:c.1118dup ENSP00000496292.1:p.Tyr373Ter
ENST00000642745.1:c.1118dup ENSP00000493963.1:p.Tyr373Ter
ENST00000642811.1:c.*888dup ENSP00000495554.1:n.*888dup
ENST00000643072.1:c.965dup ENSP00000496691.1:p.Tyr322Ter
ENST00000643275.2:c.1118dup ENSP00000495598.2:p.Tyr373Ter
ENST00000643362.1:c.876+428dup ENSP00000496398.1:n.876+428dup
ENST00000643362.2:c.876+428dup ENSP00000496398.2:n.876+428dup
ENST00000643583.1:c.1118dup ENSP00000494685.1:p.Tyr373Ter
ENST00000643625.2:c.1118dup ENSP00000495546.2:p.Tyr373Ter
ENST00000643691.2:c.755dup ENSP00000494916.2:p.Tyr252Ter
ENST00000643875.1:c.1118dup ENSP00000495158.1:p.Tyr373Ter
ENST00000644097.1:c.1118dup ENSP00000494682.1:p.Tyr373Ter
ENST00000644184.2:c.1118dup ENSP00000495428.2:p.Tyr373Ter
ENST00000644255.1:c.*888dup ENSP00000493608.1:n.*888dup
ENST00000644319.1:n.1184dup
ENST00000644997.1:c.*775dup ENSP00000495654.1:n.*775dup
ENST00000645129.1:c.965dup ENSP00000493639.1:p.Tyr322Ter
ENST00000645129.2:c.965dup ENSP00000493639.2:p.Tyr322Ter
ENST00000645150.1:c.1118dup ENSP00000494365.1:p.Tyr373Ter
ENST00000645901.1:n.1660dup
ENST00000646391.1:c.*888dup ENSP00000494104.1:n.*888dup
ENST00000646440.2:c.1118dup ENSP00000495830.2:p.Tyr373Ter
ENST00000646625.1:c.1118dup ENSP00000496263.1:p.Tyr373Ter
ENST00000647078.1:c.*15dup ENSP00000496066.1:n.*15dup
ENST00000647078.2:c.*15dup ENSP00000496066.1:n.*15dup
ENST00000647279.1:c.*357dup ENSP00000494502.1:n.*357dup
ENST00000647462.1:c.1118dup ENSP00000495821.1:p.Tyr373Ter
ENST00000647506.1:n.1685dup
ENST00000647534.1:n.182dup
XM_005272211.1:c.1118dup XP_005272268.1:p.Tyr373Ter
XM_006717271.1:c.1118dup XP_006717334.1:p.Tyr373Ter
XM_006717272.2:c.1118dup XP_006717335.1:p.Tyr373Ter
XM_011518979.1:c.1118dup XP_011517281.1:p.Tyr373Ter
XM_011518979.2:c.1118dup XP_011517281.1:p.Tyr373Ter
XM_017015096.1:c.1118dup XP_016870585.1:p.Tyr373Ter
XM_017015097.1:c.1118dup XP_016870586.1:p.Tyr373Ter
XM_017015098.1:c.1118dup XP_016870587.1:p.Tyr373Ter
XM_017015100.1:c.755dup XP_016870589.1:p.Tyr252Ter
XM_017015101.1:c.755dup XP_016870590.1:p.Tyr252Ter