Canonical Allele Identifier: CA375366696
Community Standard Title: NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896437T>C , CM000671.2:g.132896437T>C GRCh38
NC_000009.11:g.135771824T>C , CM000671.1:g.135771824T>C GRCh37
NC_000009.10:g.134761645T>C NCBI36
NG_012386.1:g.53197A>G , LRG_486:g.53197A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3293A>G MANE Select NP_000359.1:p.Asn1098Ser
ENST00000298552.9:c.3293A>G MANE Select ENSP00000298552.3:p.Asn1098Ser
NM_000368.4:c.3293A>G , LRG_486t1:c.3293A>G NP_000359.1:p.Asn1098Ser
NM_001162426.1:c.3290A>G NP_001155898.1:p.Asn1097Ser
NM_001162426.2:c.3290A>G NP_001155898.1:p.Asn1097Ser
NM_001162427.1:c.3140A>G NP_001155899.1:p.Asn1047Ser
NM_001162427.2:c.3140A>G NP_001155899.1:p.Asn1047Ser
NM_001362177.1:c.2930A>G NP_001349106.1:p.Asn977Ser
NM_001362177.2:c.2930A>G NP_001349106.1:p.Asn977Ser
ENST00000298552.7:c.3293A>G ENSP00000298552.3:p.Asn1098Ser
ENST00000440111.6:c.3293A>G ENSP00000394524.2:p.Asn1098Ser
ENST00000475903.7:c.3290A>G ENSP00000496126.2:p.Asn1097Ser
ENST00000490179.4:c.3293A>G ENSP00000495533.2:p.Asn1098Ser
ENST00000545250.5:c.3140A>G ENSP00000444017.1:p.Asn1047Ser
ENST00000642261.2:c.*1149A>G ENSP00000494743.2:n.*1149A>G
ENST00000642617.1:c.3290A>G ENSP00000493773.1:p.Asn1097Ser
ENST00000642627.1:c.3275A>G ENSP00000496772.1:p.Asn1092Ser
ENST00000642811.1:c.*3063A>G ENSP00000495554.1:n.*3063A>G
ENST00000643072.1:c.3140A>G ENSP00000496691.1:p.Asn1047Ser
ENST00000643275.2:c.*1233A>G ENSP00000495598.2:n.*1233A>G
ENST00000643362.2:c.2906A>G ENSP00000496398.2:p.Asn969Ser
ENST00000643583.1:c.3278A>G ENSP00000494685.1:p.Asn1093Ser
ENST00000643625.1:c.1170A>G ENSP00000495546.1:n.1170A>G
ENST00000643625.2:c.*1035A>G ENSP00000495546.2:n.*1035A>G
ENST00000643691.2:c.2930A>G ENSP00000494916.2:p.Asn977Ser
ENST00000643875.1:c.3293A>G ENSP00000495158.1:p.Asn1098Ser
ENST00000644097.1:c.3290A>G ENSP00000494682.1:p.Asn1097Ser
ENST00000644184.1:c.1988A>G ENSP00000495428.1:p.Asn663Ser
ENST00000644184.2:c.3251A>G ENSP00000495428.2:p.Asn1084Ser
ENST00000644255.1:c.*3060A>G ENSP00000493608.1:n.*3060A>G
ENST00000644319.1:n.3668A>G
ENST00000644786.1:n.952A>G
ENST00000644882.1:n.2201A>G
ENST00000645129.2:c.3137A>G ENSP00000493639.2:p.Asn1046Ser
ENST00000645901.1:n.4144A>G
ENST00000646391.1:c.*3063A>G ENSP00000494104.1:n.*3063A>G
ENST00000646440.2:c.3293A>G ENSP00000495830.2:p.Asn1098Ser
ENST00000646625.1:c.3293A>G ENSP00000496263.1:p.Asn1098Ser
ENST00000647262.1:n.2258A>G
ENST00000647279.1:c.*2532A>G ENSP00000494502.1:n.*2532A>G
ENST00000647534.1:n.2357A>G
XM_005272211.1:c.3293A>G XP_005272268.1:p.Asn1098Ser
XM_006717271.1:c.3293A>G XP_006717334.1:p.Asn1098Ser
XM_011518979.1:c.3293A>G XP_011517281.1:p.Asn1098Ser
XM_011518979.2:c.3293A>G XP_011517281.1:p.Asn1098Ser
XM_017015096.1:c.3293A>G XP_016870585.1:p.Asn1098Ser
XM_017015097.1:c.3293A>G XP_016870586.1:p.Asn1098Ser
XM_017015098.1:c.3290A>G XP_016870587.1:p.Asn1097Ser
XM_017015100.1:c.2930A>G XP_016870589.1:p.Asn977Ser
XM_017015101.1:c.2927A>G XP_016870590.1:p.Asn976Ser