Canonical Allele Identifier: CA375366418
Community Standard Title: NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896315G>A , CM000671.2:g.132896315G>A GRCh38
NC_000009.11:g.135771702G>A , CM000671.1:g.135771702G>A GRCh37
NC_000009.10:g.134761523G>A NCBI36
NG_012386.1:g.53319C>T , LRG_486:g.53319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3415C>T MANE Select NP_000359.1:p.His1139Tyr
ENST00000298552.9:c.3415C>T MANE Select ENSP00000298552.3:p.His1139Tyr
NM_000368.4:c.3415C>T , LRG_486t1:c.3415C>T NP_000359.1:p.His1139Tyr
NM_001162426.1:c.3412C>T NP_001155898.1:p.His1138Tyr
NM_001162426.2:c.3412C>T NP_001155898.1:p.His1138Tyr
NM_001162427.1:c.3262C>T NP_001155899.1:p.His1088Tyr
NM_001162427.2:c.3262C>T NP_001155899.1:p.His1088Tyr
NM_001362177.1:c.3052C>T NP_001349106.1:p.His1018Tyr
NM_001362177.2:c.3052C>T NP_001349106.1:p.His1018Tyr
ENST00000298552.7:c.3415C>T ENSP00000298552.3:p.His1139Tyr
ENST00000440111.6:c.3415C>T ENSP00000394524.2:p.His1139Tyr
ENST00000475903.7:c.3412C>T ENSP00000496126.2:p.His1138Tyr
ENST00000490179.4:c.3415C>T ENSP00000495533.2:p.His1139Tyr
ENST00000545250.5:c.3262C>T ENSP00000444017.1:p.His1088Tyr
ENST00000642261.2:c.*1271C>T ENSP00000494743.2:n.*1271C>T
ENST00000642617.1:c.3412C>T ENSP00000493773.1:p.His1138Tyr
ENST00000642627.1:c.3397C>T ENSP00000496772.1:p.His1133Tyr
ENST00000642811.1:c.*3185C>T ENSP00000495554.1:n.*3185C>T
ENST00000643072.1:c.3262C>T ENSP00000496691.1:p.His1088Tyr
ENST00000643275.2:c.*1355C>T ENSP00000495598.2:n.*1355C>T
ENST00000643362.2:c.3028C>T ENSP00000496398.2:p.His1010Tyr
ENST00000643583.1:c.3400C>T ENSP00000494685.1:p.His1134Tyr
ENST00000643625.1:c.1292C>T ENSP00000495546.1:n.1292C>T
ENST00000643625.2:c.*1157C>T ENSP00000495546.2:n.*1157C>T
ENST00000643691.2:c.3052C>T ENSP00000494916.2:p.His1018Tyr
ENST00000643875.1:c.3415C>T ENSP00000495158.1:p.His1139Tyr
ENST00000644097.1:c.3412C>T ENSP00000494682.1:p.His1138Tyr
ENST00000644184.1:c.2110C>T ENSP00000495428.1:p.His704Tyr
ENST00000644184.2:c.3373C>T ENSP00000495428.2:p.His1125Tyr
ENST00000644255.1:c.*3182C>T ENSP00000493608.1:n.*3182C>T
ENST00000644319.1:n.3790C>T
ENST00000644786.1:n.1074C>T
ENST00000644882.1:n.2323C>T
ENST00000645129.2:c.3259C>T ENSP00000493639.2:p.His1087Tyr
ENST00000645901.1:n.4266C>T
ENST00000646391.1:c.*3185C>T ENSP00000494104.1:n.*3185C>T
ENST00000646440.2:c.3415C>T ENSP00000495830.2:p.His1139Tyr
ENST00000646625.1:c.3415C>T ENSP00000496263.1:p.His1139Tyr
ENST00000647262.1:n.2380C>T
ENST00000647279.1:c.*2654C>T ENSP00000494502.1:n.*2654C>T
ENST00000647534.1:n.2479C>T
XM_005272211.1:c.3415C>T XP_005272268.1:p.His1139Tyr
XM_006717271.1:c.3415C>T XP_006717334.1:p.His1139Tyr
XM_011518979.1:c.3415C>T XP_011517281.1:p.His1139Tyr
XM_011518979.2:c.3415C>T XP_011517281.1:p.His1139Tyr
XM_017015096.1:c.3415C>T XP_016870585.1:p.His1139Tyr
XM_017015097.1:c.3415C>T XP_016870586.1:p.His1139Tyr
XM_017015098.1:c.3412C>T XP_016870587.1:p.His1138Tyr
XM_017015100.1:c.3052C>T XP_016870589.1:p.His1018Tyr
XM_017015101.1:c.3049C>T XP_016870590.1:p.His1017Tyr