Canonical Allele Identifier: CA467590435
Community Standard Title: NM_000368.5(TSC1):c.2484C>T (p.Leu828=)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132901607G>A , CM000671.2:g.132901607G>A GRCh38
NC_000009.11:g.135776994G>A , CM000671.1:g.135776994G>A GRCh37
NC_000009.10:g.134766815G>A NCBI36
NG_012386.1:g.48027C>T , LRG_486:g.48027C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2484C>T MANE Select NP_000359.1:p.Leu828=
ENST00000298552.9:c.2484C>T MANE Select ENSP00000298552.3:p.Leu828=
NM_000368.4:c.2484C>T , LRG_486t1:c.2484C>T NP_000359.1:p.Leu828=
NM_001162426.1:c.2481C>T NP_001155898.1:p.Leu827=
NM_001162426.2:c.2481C>T NP_001155898.1:p.Leu827=
NM_001162427.1:c.2331C>T NP_001155899.1:p.Leu777=
NM_001162427.2:c.2331C>T NP_001155899.1:p.Leu777=
NM_001362177.1:c.2121C>T NP_001349106.1:p.Leu707=
NM_001362177.2:c.2121C>T NP_001349106.1:p.Leu707=
ENST00000298552.7:c.2484C>T ENSP00000298552.3:p.Leu828=
ENST00000440111.6:c.2484C>T ENSP00000394524.2:p.Leu828=
ENST00000475903.7:c.2481C>T ENSP00000496126.2:p.Leu827=
ENST00000490179.4:c.2484C>T ENSP00000495533.2:p.Leu828=
ENST00000545250.5:c.2331C>T ENSP00000444017.1:p.Leu777=
ENST00000642261.1:c.544C>T
ENST00000642261.2:c.*263C>T ENSP00000494743.2:n.*263C>T
ENST00000642617.1:c.2481C>T ENSP00000493773.1:p.Leu827=
ENST00000642627.1:c.2466C>T ENSP00000496772.1:p.Leu822=
ENST00000642811.1:c.*2254C>T ENSP00000495554.1:n.*2254C>T
ENST00000643072.1:c.2331C>T ENSP00000496691.1:p.Leu777=
ENST00000643275.1:c.958C>T ENSP00000495598.1:n.958C>T
ENST00000643275.2:c.*424C>T ENSP00000495598.2:n.*424C>T
ENST00000643362.2:c.2097C>T ENSP00000496398.2:p.Leu699=
ENST00000643583.1:c.2469C>T ENSP00000494685.1:p.Leu823=
ENST00000643625.1:c.361C>T ENSP00000495546.1:n.361C>T
ENST00000643625.2:c.*226C>T ENSP00000495546.2:n.*226C>T
ENST00000643691.2:c.2121C>T ENSP00000494916.2:p.Leu707=
ENST00000643875.1:c.2484C>T ENSP00000495158.1:p.Leu828=
ENST00000644097.1:c.2481C>T ENSP00000494682.1:p.Leu827=
ENST00000644184.1:c.1197+24C>T ENSP00000495428.1:n.1197+24C>T
ENST00000644184.2:c.2460+24C>T ENSP00000495428.2:n.2460+24C>T
ENST00000644255.1:c.*2251C>T ENSP00000493608.1:n.*2251C>T
ENST00000644319.1:n.2859C>T
ENST00000644786.1:n.143C>T
ENST00000644882.1:n.1415+24C>T
ENST00000645129.2:c.2328C>T ENSP00000493639.2:p.Leu776=
ENST00000645901.1:n.3335C>T
ENST00000646391.1:c.*2254C>T ENSP00000494104.1:n.*2254C>T
ENST00000646440.2:c.2484C>T ENSP00000495830.2:p.Leu828=
ENST00000646625.1:c.2484C>T ENSP00000496263.1:p.Leu828=
ENST00000647262.1:n.1449C>T
ENST00000647279.1:c.*1723C>T ENSP00000494502.1:n.*1723C>T
ENST00000647506.1:n.3360C>T
ENST00000647534.1:n.1548C>T
XM_005272211.1:c.2484C>T XP_005272268.1:p.Leu828=
XM_006717271.1:c.2484C>T XP_006717334.1:p.Leu828=
XM_011518979.1:c.2484C>T XP_011517281.1:p.Leu828=
XM_011518979.2:c.2484C>T XP_011517281.1:p.Leu828=
XM_017015096.1:c.2484C>T XP_016870585.1:p.Leu828=
XM_017015097.1:c.2484C>T XP_016870586.1:p.Leu828=
XM_017015098.1:c.2481C>T XP_016870587.1:p.Leu827=
XM_017015100.1:c.2121C>T XP_016870589.1:p.Leu707=
XM_017015101.1:c.2118C>T XP_016870590.1:p.Leu706=