Canonical Allele Identifier: CA16612731
Community Standard Title: NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896486G>C , CM000671.2:g.132896486G>C GRCh38
NC_000009.11:g.135771873G>C , CM000671.1:g.135771873G>C GRCh37
NC_000009.10:g.134761694G>C NCBI36
NG_012386.1:g.53148C>G , LRG_486:g.53148C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3244C>G MANE Select NP_000359.1:p.Pro1082Ala
ENST00000298552.9:c.3244C>G MANE Select ENSP00000298552.3:p.Pro1082Ala
NM_000368.4:c.3244C>G , LRG_486t1:c.3244C>G NP_000359.1:p.Pro1082Ala
NM_001162426.1:c.3241C>G NP_001155898.1:p.Pro1081Ala
NM_001162426.2:c.3241C>G NP_001155898.1:p.Pro1081Ala
NM_001162427.1:c.3091C>G NP_001155899.1:p.Pro1031Ala
NM_001162427.2:c.3091C>G NP_001155899.1:p.Pro1031Ala
NM_001362177.1:c.2881C>G NP_001349106.1:p.Pro961Ala
NM_001362177.2:c.2881C>G NP_001349106.1:p.Pro961Ala
ENST00000298552.7:c.3244C>G ENSP00000298552.3:p.Pro1082Ala
ENST00000440111.6:c.3244C>G ENSP00000394524.2:p.Pro1082Ala
ENST00000475903.7:c.3241C>G ENSP00000496126.2:p.Pro1081Ala
ENST00000490179.4:c.3244C>G ENSP00000495533.2:p.Pro1082Ala
ENST00000545250.5:c.3091C>G ENSP00000444017.1:p.Pro1031Ala
ENST00000642261.2:c.*1100C>G ENSP00000494743.2:n.*1100C>G
ENST00000642617.1:c.3241C>G ENSP00000493773.1:p.Pro1081Ala
ENST00000642627.1:c.3226C>G ENSP00000496772.1:p.Pro1076Ala
ENST00000642811.1:c.*3014C>G ENSP00000495554.1:n.*3014C>G
ENST00000643072.1:c.3091C>G ENSP00000496691.1:p.Pro1031Ala
ENST00000643275.2:c.*1184C>G ENSP00000495598.2:n.*1184C>G
ENST00000643362.2:c.2857C>G ENSP00000496398.2:p.Pro953Ala
ENST00000643583.1:c.3229C>G ENSP00000494685.1:p.Pro1077Ala
ENST00000643625.1:c.1121C>G ENSP00000495546.1:n.1121C>G
ENST00000643625.2:c.*986C>G ENSP00000495546.2:n.*986C>G
ENST00000643691.2:c.2881C>G ENSP00000494916.2:p.Pro961Ala
ENST00000643875.1:c.3244C>G ENSP00000495158.1:p.Pro1082Ala
ENST00000644097.1:c.3241C>G ENSP00000494682.1:p.Pro1081Ala
ENST00000644184.1:c.1939C>G ENSP00000495428.1:p.Pro647Ala
ENST00000644184.2:c.3202C>G ENSP00000495428.2:p.Pro1068Ala
ENST00000644255.1:c.*3011C>G ENSP00000493608.1:n.*3011C>G
ENST00000644319.1:n.3619C>G
ENST00000644786.1:n.903C>G
ENST00000644882.1:n.2152C>G
ENST00000645129.2:c.3088C>G ENSP00000493639.2:p.Pro1030Ala
ENST00000645901.1:n.4095C>G
ENST00000646391.1:c.*3014C>G ENSP00000494104.1:n.*3014C>G
ENST00000646440.2:c.3244C>G ENSP00000495830.2:p.Pro1082Ala
ENST00000646625.1:c.3244C>G ENSP00000496263.1:p.Pro1082Ala
ENST00000647262.1:n.2209C>G
ENST00000647279.1:c.*2483C>G ENSP00000494502.1:n.*2483C>G
ENST00000647534.1:n.2308C>G
XM_005272211.1:c.3244C>G XP_005272268.1:p.Pro1082Ala
XM_006717271.1:c.3244C>G XP_006717334.1:p.Pro1082Ala
XM_011518979.1:c.3244C>G XP_011517281.1:p.Pro1082Ala
XM_011518979.2:c.3244C>G XP_011517281.1:p.Pro1082Ala
XM_017015096.1:c.3244C>G XP_016870585.1:p.Pro1082Ala
XM_017015097.1:c.3244C>G XP_016870586.1:p.Pro1082Ala
XM_017015098.1:c.3241C>G XP_016870587.1:p.Pro1081Ala
XM_017015100.1:c.2881C>G XP_016870589.1:p.Pro961Ala
XM_017015101.1:c.2878C>G XP_016870590.1:p.Pro960Ala