Canonical Allele Identifier: CA375358712
Community Standard Title: NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132901678T>C , CM000671.2:g.132901678T>C GRCh38
NC_000009.11:g.135777065T>C , CM000671.1:g.135777065T>C GRCh37
NC_000009.10:g.134766886T>C NCBI36
NG_012386.1:g.47956A>G , LRG_486:g.47956A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2413A>G MANE Select NP_000359.1:p.Asn805Asp
ENST00000298552.9:c.2413A>G MANE Select ENSP00000298552.3:p.Asn805Asp
NM_000368.4:c.2413A>G , LRG_486t1:c.2413A>G NP_000359.1:p.Asn805Asp
NM_001162426.1:c.2410A>G NP_001155898.1:p.Asn804Asp
NM_001162426.2:c.2410A>G NP_001155898.1:p.Asn804Asp
NM_001162427.1:c.2260A>G NP_001155899.1:p.Asn754Asp
NM_001162427.2:c.2260A>G NP_001155899.1:p.Asn754Asp
NM_001362177.1:c.2050A>G NP_001349106.1:p.Asn684Asp
NM_001362177.2:c.2050A>G NP_001349106.1:p.Asn684Asp
ENST00000298552.7:c.2413A>G ENSP00000298552.3:p.Asn805Asp
ENST00000440111.6:c.2413A>G ENSP00000394524.2:p.Asn805Asp
ENST00000475903.7:c.2410A>G ENSP00000496126.2:p.Asn804Asp
ENST00000490179.4:c.2413A>G ENSP00000495533.2:p.Asn805Asp
ENST00000545250.5:c.2260A>G ENSP00000444017.1:p.Asn754Asp
ENST00000642261.1:c.473A>G
ENST00000642261.2:c.*192A>G ENSP00000494743.2:n.*192A>G
ENST00000642617.1:c.2410A>G ENSP00000493773.1:p.Asn804Asp
ENST00000642627.1:c.2395A>G ENSP00000496772.1:p.Asn799Asp
ENST00000642811.1:c.*2183A>G ENSP00000495554.1:n.*2183A>G
ENST00000643072.1:c.2260A>G ENSP00000496691.1:p.Asn754Asp
ENST00000643275.1:c.887A>G ENSP00000495598.1:n.887A>G
ENST00000643275.2:c.*353A>G ENSP00000495598.2:n.*353A>G
ENST00000643362.2:c.2026A>G ENSP00000496398.2:p.Asn676Asp
ENST00000643583.1:c.2398A>G ENSP00000494685.1:p.Asn800Asp
ENST00000643625.1:c.290A>G ENSP00000495546.1:n.290A>G
ENST00000643625.2:c.*155A>G ENSP00000495546.2:n.*155A>G
ENST00000643691.2:c.2050A>G ENSP00000494916.2:p.Asn684Asp
ENST00000643875.1:c.2413A>G ENSP00000495158.1:p.Asn805Asp
ENST00000644097.1:c.2410A>G ENSP00000494682.1:p.Asn804Asp
ENST00000644184.1:c.1150A>G ENSP00000495428.1:p.Asn384Asp
ENST00000644184.2:c.2413A>G ENSP00000495428.2:p.Asn805Asp
ENST00000644255.1:c.*2180A>G ENSP00000493608.1:n.*2180A>G
ENST00000644319.1:n.2788A>G
ENST00000644786.1:n.72A>G
ENST00000644882.1:n.1368A>G
ENST00000645129.2:c.2257A>G ENSP00000493639.2:p.Asn753Asp
ENST00000645901.1:n.3264A>G
ENST00000646391.1:c.*2183A>G ENSP00000494104.1:n.*2183A>G
ENST00000646440.2:c.2413A>G ENSP00000495830.2:p.Asn805Asp
ENST00000646625.1:c.2413A>G ENSP00000496263.1:p.Asn805Asp
ENST00000647262.1:n.1378A>G
ENST00000647279.1:c.*1652A>G ENSP00000494502.1:n.*1652A>G
ENST00000647506.1:n.3289A>G
ENST00000647534.1:n.1477A>G
XM_005272211.1:c.2413A>G XP_005272268.1:p.Asn805Asp
XM_006717271.1:c.2413A>G XP_006717334.1:p.Asn805Asp
XM_011518979.1:c.2413A>G XP_011517281.1:p.Asn805Asp
XM_011518979.2:c.2413A>G XP_011517281.1:p.Asn805Asp
XM_017015096.1:c.2413A>G XP_016870585.1:p.Asn805Asp
XM_017015097.1:c.2413A>G XP_016870586.1:p.Asn805Asp
XM_017015098.1:c.2410A>G XP_016870587.1:p.Asn804Asp
XM_017015100.1:c.2050A>G XP_016870589.1:p.Asn684Asp
XM_017015101.1:c.2047A>G XP_016870590.1:p.Asn683Asp