Canonical Allele Identifier: CA398532206

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17217100T>G , CM000679.2:g.17217100T>G GRCh38
NC_000017.10:g.17120414T>G , CM000679.1:g.17120414T>G GRCh37
NC_000017.9:g.17061139T>G NCBI36
NG_008001.2:g.25089A>C , LRG_325:g.25089A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1145A>C (FLCN) MANE Select ENSP00000285071.4:p.Asp382Ala
ENST00000285071.8:c.1145A>C (FLCN) ENSP00000285071.4:p.Asp382Ala
ENST00000427497.3:c.267A>C ENSP00000394249.3:p.Gly89=
ENST00000577591.1:n.168A>C (FLCN)
ENST00000578209.5:c.562-390T>G (MPRIP)
NM_144997.5:c.1145A>C , LRG_325t1:c.1145A>C (FLCN) NP_659434.2:p.Asp382Ala
XM_011523714.1:c.1199A>C (FLCN) XP_011522016.1:p.Asp400Ala
XM_011523715.1:c.1199A>C (FLCN) XP_011522017.1:p.Asp400Ala
XM_011523716.1:c.1199A>C (FLCN) XP_011522018.1:p.Asp400Ala
XM_011523717.1:c.1199A>C (FLCN) XP_011522019.1:p.Asp400Ala
XM_011523718.1:c.1199A>C (FLCN) XP_011522020.1:p.Asp400Ala
XM_011523719.1:c.1199A>C (FLCN) XP_011522021.1:p.Asp400Ala
XM_011523720.1:c.923A>C (FLCN) XP_011522022.1:p.Asp308Ala
XM_011523721.1:c.1199A>C (FLCN) XP_011522023.1:p.Asp400Ala
XR_934007.1:n.2539A>C (FLCN)
NM_001353229.1:c.1199A>C (FLCN) NP_001340158.1:p.Asp400Ala
NM_001353230.1:c.1145A>C (FLCN) NP_001340159.1:p.Asp382Ala
NM_001353231.1:c.1145A>C (FLCN) NP_001340160.1:p.Asp382Ala
NM_144997.6:c.1145A>C (FLCN) NP_659434.2:p.Asp382Ala
XM_011523714.3:c.1199A>C (FLCN) XP_011522016.1:p.Asp400Ala
XM_011523718.3:c.1199A>C (FLCN) XP_011522020.1:p.Asp400Ala
XM_011523719.3:c.1199A>C (FLCN) XP_011522021.1:p.Asp400Ala
XM_011523721.3:c.1199A>C (FLCN) XP_011522023.1:p.Asp400Ala
XM_017024305.2:c.1199A>C (FLCN) XP_016879794.1:p.Asp400Ala
XM_017024308.1:c.1145A>C (FLCN) XP_016879797.1:p.Asp382Ala
XM_017024309.2:c.923A>C (FLCN) XP_016879798.1:p.Asp308Ala
XM_024450635.1:c.1199A>C (FLCN) XP_024306403.1:p.Asp400Ala
XR_001752445.2:n.1703A>C (FLCN)
NM_144997.7:c.1145A>C (FLCN) MANE Select NP_659434.2:p.Asp382Ala
NM_001353229.2:c.1199A>C (FLCN) NP_001340158.1:p.Asp400Ala
NM_001353230.2:c.1145A>C (FLCN) NP_001340159.1:p.Asp382Ala
NM_001353231.2:c.1145A>C (FLCN) NP_001340160.1:p.Asp382Ala