Canonical Allele Identifier: CA2636351976

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213204G>T , CM000679.2:g.17213204G>T GRCh38
NC_000017.10:g.17116518G>T , CM000679.1:g.17116518G>T GRCh37
NC_000017.9:g.17057243G>T NCBI36
NG_008001.2:g.28985C>A , LRG_325:g.28985C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.*451C>A (FLCN) MANE Select ENSP00000285071.4:n.*451C>A
ENST00000285071.8:c.*451C>A (FLCN) ENSP00000285071.4:n.*451C>A
ENST00000427497.3:c.*372+1781C>A ENSP00000394249.3:n.*372+1781C>A
ENST00000578209.5:c.562-4286G>T (MPRIP)
NM_144997.5:c.*451C>A , LRG_325t1:c.*451C>A (FLCN) NP_659434.2:n.*451C>A
XM_011523714.1:c.*451C>A (FLCN) XP_011522016.1:n.*451C>A
XM_011523715.1:c.*451C>A (FLCN) XP_011522017.1:n.*451C>A
XM_011523716.1:c.*451C>A (FLCN) XP_011522018.1:n.*451C>A
XM_011523717.1:c.*451C>A (FLCN) XP_011522019.1:n.*451C>A
XM_011523718.1:c.*451C>A (FLCN) XP_011522020.1:n.*451C>A
XM_011523719.1:c.1592+1781C>A (FLCN) XP_011522021.1:n.1592+1781C>A
XM_011523720.1:c.*451C>A (FLCN) XP_011522022.1:n.*451C>A
XM_011523721.1:c.*451C>A (FLCN) XP_011522023.1:n.*451C>A
NM_001353229.1:c.*451C>A (FLCN) NP_001340158.1:n.*451C>A
NM_001353230.1:c.*451C>A (FLCN) NP_001340159.1:n.*451C>A
NM_001353231.1:c.*451C>A (FLCN) NP_001340160.1:n.*451C>A
NM_144997.6:c.*451C>A (FLCN) NP_659434.2:n.*451C>A
XM_011523719.3:c.1592+1781C>A (FLCN) XP_011522021.1:n.1592+1781C>A
XM_017024309.2:c.*451C>A (FLCN) XP_016879798.1:n.*451C>A
NM_144997.7:c.*451C>A (FLCN) MANE Select NP_659434.2:n.*451C>A
NM_001353229.2:c.*451C>A (FLCN) NP_001340158.1:n.*451C>A
NM_001353230.2:c.*451C>A (FLCN) NP_001340159.1:n.*451C>A
NM_001353231.2:c.*451C>A (FLCN) NP_001340160.1:n.*451C>A