Canonical Allele Identifier: CA036285
Community Standard Title: NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896462T>C , CM000671.2:g.132896462T>C GRCh38
NC_000009.11:g.135771849T>C , CM000671.1:g.135771849T>C GRCh37
NC_000009.10:g.134761670T>C NCBI36
NG_012386.1:g.53172A>G , LRG_486:g.53172A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3268A>G MANE Select NP_000359.1:p.Met1090Val
ENST00000298552.9:c.3268A>G MANE Select ENSP00000298552.3:p.Met1090Val
NM_000368.4:c.3268A>G , LRG_486t1:c.3268A>G NP_000359.1:p.Met1090Val
NM_001162426.1:c.3265A>G NP_001155898.1:p.Met1089Val
NM_001162426.2:c.3265A>G NP_001155898.1:p.Met1089Val
NM_001162427.1:c.3115A>G NP_001155899.1:p.Met1039Val
NM_001162427.2:c.3115A>G NP_001155899.1:p.Met1039Val
NM_001362177.1:c.2905A>G NP_001349106.1:p.Met969Val
NM_001362177.2:c.2905A>G NP_001349106.1:p.Met969Val
ENST00000298552.7:c.3268A>G ENSP00000298552.3:p.Met1090Val
ENST00000440111.6:c.3268A>G ENSP00000394524.2:p.Met1090Val
ENST00000475903.7:c.3265A>G ENSP00000496126.2:p.Met1089Val
ENST00000490179.4:c.3268A>G ENSP00000495533.2:p.Met1090Val
ENST00000545250.5:c.3115A>G ENSP00000444017.1:p.Met1039Val
ENST00000642261.2:c.*1124A>G ENSP00000494743.2:n.*1124A>G
ENST00000642617.1:c.3265A>G ENSP00000493773.1:p.Met1089Val
ENST00000642627.1:c.3250A>G ENSP00000496772.1:p.Met1084Val
ENST00000642811.1:c.*3038A>G ENSP00000495554.1:n.*3038A>G
ENST00000643072.1:c.3115A>G ENSP00000496691.1:p.Met1039Val
ENST00000643275.2:c.*1208A>G ENSP00000495598.2:n.*1208A>G
ENST00000643362.2:c.2881A>G ENSP00000496398.2:p.Met961Val
ENST00000643583.1:c.3253A>G ENSP00000494685.1:p.Met1085Val
ENST00000643625.1:c.1145A>G ENSP00000495546.1:n.1145A>G
ENST00000643625.2:c.*1010A>G ENSP00000495546.2:n.*1010A>G
ENST00000643691.2:c.2905A>G ENSP00000494916.2:p.Met969Val
ENST00000643875.1:c.3268A>G ENSP00000495158.1:p.Met1090Val
ENST00000644097.1:c.3265A>G ENSP00000494682.1:p.Met1089Val
ENST00000644184.1:c.1963A>G ENSP00000495428.1:p.Met655Val
ENST00000644184.2:c.3226A>G ENSP00000495428.2:p.Met1076Val
ENST00000644255.1:c.*3035A>G ENSP00000493608.1:n.*3035A>G
ENST00000644319.1:n.3643A>G
ENST00000644786.1:n.927A>G
ENST00000644882.1:n.2176A>G
ENST00000645129.2:c.3112A>G ENSP00000493639.2:p.Met1038Val
ENST00000645901.1:n.4119A>G
ENST00000646391.1:c.*3038A>G ENSP00000494104.1:n.*3038A>G
ENST00000646440.2:c.3268A>G ENSP00000495830.2:p.Met1090Val
ENST00000646625.1:c.3268A>G ENSP00000496263.1:p.Met1090Val
ENST00000647262.1:n.2233A>G
ENST00000647279.1:c.*2507A>G ENSP00000494502.1:n.*2507A>G
ENST00000647534.1:n.2332A>G
XM_005272211.1:c.3268A>G XP_005272268.1:p.Met1090Val
XM_006717271.1:c.3268A>G XP_006717334.1:p.Met1090Val
XM_011518979.1:c.3268A>G XP_011517281.1:p.Met1090Val
XM_011518979.2:c.3268A>G XP_011517281.1:p.Met1090Val
XM_017015096.1:c.3268A>G XP_016870585.1:p.Met1090Val
XM_017015097.1:c.3268A>G XP_016870586.1:p.Met1090Val
XM_017015098.1:c.3265A>G XP_016870587.1:p.Met1089Val
XM_017015100.1:c.2905A>G XP_016870589.1:p.Met969Val
XM_017015101.1:c.2902A>G XP_016870590.1:p.Met968Val