Canonical Allele Identifier: CA375363304
Community Standard Title: NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905759G>A , CM000671.2:g.132905759G>A GRCh38
NC_000009.11:g.135781146G>A , CM000671.1:g.135781146G>A GRCh37
NC_000009.10:g.134770967G>A NCBI36
NG_012386.1:g.43875C>T , LRG_486:g.43875C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.1819C>T MANE Select NP_000359.1:p.Leu607Phe
ENST00000298552.9:c.1819C>T MANE Select ENSP00000298552.3:p.Leu607Phe
NM_000368.4:c.1819C>T , LRG_486t1:c.1819C>T NP_000359.1:p.Leu607Phe
NM_001162426.1:c.1816C>T NP_001155898.1:p.Leu606Phe
NM_001162426.2:c.1816C>T NP_001155898.1:p.Leu606Phe
NM_001162427.1:c.1666C>T NP_001155899.1:p.Leu556Phe
NM_001162427.2:c.1666C>T NP_001155899.1:p.Leu556Phe
NM_001362177.1:c.1456C>T NP_001349106.1:p.Leu486Phe
NM_001362177.2:c.1456C>T NP_001349106.1:p.Leu486Phe
ENST00000298552.7:c.1819C>T ENSP00000298552.3:p.Leu607Phe
ENST00000440111.6:c.1819C>T ENSP00000394524.2:p.Leu607Phe
ENST00000475903.7:c.1816C>T ENSP00000496126.2:p.Leu606Phe
ENST00000490179.4:c.1819C>T ENSP00000495533.2:p.Leu607Phe
ENST00000545250.5:c.1666C>T ENSP00000444017.1:p.Leu556Phe
ENST00000642261.2:c.1819C>T ENSP00000494743.2:p.Leu607Phe
ENST00000642617.1:c.1816C>T ENSP00000493773.1:p.Leu606Phe
ENST00000642627.1:c.1816C>T ENSP00000496772.1:p.Leu606Phe
ENST00000642811.1:c.*1589C>T ENSP00000495554.1:n.*1589C>T
ENST00000643072.1:c.1666C>T ENSP00000496691.1:p.Leu556Phe
ENST00000643275.1:c.337C>T ENSP00000495598.1:p.Leu113Phe
ENST00000643275.2:c.1819C>T ENSP00000495598.2:p.Leu607Phe
ENST00000643362.2:c.1432C>T ENSP00000496398.2:p.Leu478Phe
ENST00000643583.1:c.1819C>T ENSP00000494685.1:p.Leu607Phe
ENST00000643625.2:c.1819C>T ENSP00000495546.2:p.Leu607Phe
ENST00000643691.2:c.1456C>T ENSP00000494916.2:p.Leu486Phe
ENST00000643875.1:c.1819C>T ENSP00000495158.1:p.Leu607Phe
ENST00000644097.1:c.1816C>T ENSP00000494682.1:p.Leu606Phe
ENST00000644184.1:c.556C>T ENSP00000495428.1:p.Leu186Phe
ENST00000644184.2:c.1819C>T ENSP00000495428.2:p.Leu607Phe
ENST00000644255.1:c.*1586C>T ENSP00000493608.1:n.*1586C>T
ENST00000644319.1:n.2194C>T
ENST00000644882.1:n.774C>T
ENST00000645129.2:c.1663C>T ENSP00000493639.2:p.Leu555Phe
ENST00000645901.1:n.2670C>T
ENST00000646391.1:c.*1589C>T ENSP00000494104.1:n.*1589C>T
ENST00000646440.2:c.1819C>T ENSP00000495830.2:p.Leu607Phe
ENST00000646625.1:c.1819C>T ENSP00000496263.1:p.Leu607Phe
ENST00000647262.1:n.784C>T
ENST00000647279.1:c.*1058C>T ENSP00000494502.1:n.*1058C>T
ENST00000647506.1:n.2695C>T
ENST00000647534.1:n.883C>T
XM_005272211.1:c.1819C>T XP_005272268.1:p.Leu607Phe
XM_006717271.1:c.1819C>T XP_006717334.1:p.Leu607Phe
XM_006717272.2:c.1819C>T XP_006717335.1:p.Leu607Phe
XM_011518979.1:c.1819C>T XP_011517281.1:p.Leu607Phe
XM_011518979.2:c.1819C>T XP_011517281.1:p.Leu607Phe
XM_017015096.1:c.1819C>T XP_016870585.1:p.Leu607Phe
XM_017015097.1:c.1819C>T XP_016870586.1:p.Leu607Phe
XM_017015098.1:c.1816C>T XP_016870587.1:p.Leu606Phe
XM_017015100.1:c.1456C>T XP_016870589.1:p.Leu486Phe
XM_017015101.1:c.1453C>T XP_016870590.1:p.Leu485Phe