Canonical Allele Identifier: CA375358621
Community Standard Title: NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132901660G>A , CM000671.2:g.132901660G>A GRCh38
NC_000009.11:g.135777047G>A , CM000671.1:g.135777047G>A GRCh37
NC_000009.10:g.134766868G>A NCBI36
NG_012386.1:g.47974C>T , LRG_486:g.47974C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2431C>T MANE Select NP_000359.1:p.Arg811Trp
ENST00000298552.9:c.2431C>T MANE Select ENSP00000298552.3:p.Arg811Trp
NM_000368.4:c.2431C>T , LRG_486t1:c.2431C>T NP_000359.1:p.Arg811Trp
NM_001162426.1:c.2428C>T NP_001155898.1:p.Arg810Trp
NM_001162426.2:c.2428C>T NP_001155898.1:p.Arg810Trp
NM_001162427.1:c.2278C>T NP_001155899.1:p.Arg760Trp
NM_001162427.2:c.2278C>T NP_001155899.1:p.Arg760Trp
NM_001362177.1:c.2068C>T NP_001349106.1:p.Arg690Trp
NM_001362177.2:c.2068C>T NP_001349106.1:p.Arg690Trp
ENST00000298552.7:c.2431C>T ENSP00000298552.3:p.Arg811Trp
ENST00000440111.6:c.2431C>T ENSP00000394524.2:p.Arg811Trp
ENST00000475903.7:c.2428C>T ENSP00000496126.2:p.Arg810Trp
ENST00000490179.4:c.2431C>T ENSP00000495533.2:p.Arg811Trp
ENST00000545250.5:c.2278C>T ENSP00000444017.1:p.Arg760Trp
ENST00000642261.1:c.491C>T
ENST00000642261.2:c.*210C>T ENSP00000494743.2:n.*210C>T
ENST00000642617.1:c.2428C>T ENSP00000493773.1:p.Arg810Trp
ENST00000642627.1:c.2413C>T ENSP00000496772.1:p.Arg805Trp
ENST00000642811.1:c.*2201C>T ENSP00000495554.1:n.*2201C>T
ENST00000643072.1:c.2278C>T ENSP00000496691.1:p.Arg760Trp
ENST00000643275.1:c.905C>T ENSP00000495598.1:n.905C>T
ENST00000643275.2:c.*371C>T ENSP00000495598.2:n.*371C>T
ENST00000643362.2:c.2044C>T ENSP00000496398.2:p.Arg682Trp
ENST00000643583.1:c.2416C>T ENSP00000494685.1:p.Arg806Trp
ENST00000643625.1:c.308C>T ENSP00000495546.1:n.308C>T
ENST00000643625.2:c.*173C>T ENSP00000495546.2:n.*173C>T
ENST00000643691.2:c.2068C>T ENSP00000494916.2:p.Arg690Trp
ENST00000643875.1:c.2431C>T ENSP00000495158.1:p.Arg811Trp
ENST00000644097.1:c.2428C>T ENSP00000494682.1:p.Arg810Trp
ENST00000644184.1:c.1168C>T ENSP00000495428.1:p.Arg390Trp
ENST00000644184.2:c.2431C>T ENSP00000495428.2:p.Arg811Trp
ENST00000644255.1:c.*2198C>T ENSP00000493608.1:n.*2198C>T
ENST00000644319.1:n.2806C>T
ENST00000644786.1:n.90C>T
ENST00000644882.1:n.1386C>T
ENST00000645129.2:c.2275C>T ENSP00000493639.2:p.Arg759Trp
ENST00000645901.1:n.3282C>T
ENST00000646391.1:c.*2201C>T ENSP00000494104.1:n.*2201C>T
ENST00000646440.2:c.2431C>T ENSP00000495830.2:p.Arg811Trp
ENST00000646625.1:c.2431C>T ENSP00000496263.1:p.Arg811Trp
ENST00000647262.1:n.1396C>T
ENST00000647279.1:c.*1670C>T ENSP00000494502.1:n.*1670C>T
ENST00000647506.1:n.3307C>T
ENST00000647534.1:n.1495C>T
XM_005272211.1:c.2431C>T XP_005272268.1:p.Arg811Trp
XM_006717271.1:c.2431C>T XP_006717334.1:p.Arg811Trp
XM_011518979.1:c.2431C>T XP_011517281.1:p.Arg811Trp
XM_011518979.2:c.2431C>T XP_011517281.1:p.Arg811Trp
XM_017015096.1:c.2431C>T XP_016870585.1:p.Arg811Trp
XM_017015097.1:c.2431C>T XP_016870586.1:p.Arg811Trp
XM_017015098.1:c.2428C>T XP_016870587.1:p.Arg810Trp
XM_017015100.1:c.2068C>T XP_016870589.1:p.Arg690Trp
XM_017015101.1:c.2065C>T XP_016870590.1:p.Arg689Trp