Canonical Allele Identifier: CA498163155

Linked Data

MyVariant Identifiers: chr17:g.17117143G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213829G>C , CM000679.2:g.17213829G>C GRCh38
NC_000017.10:g.17117143G>C , CM000679.1:g.17117143G>C GRCh37
NC_000017.9:g.17057868G>C NCBI36
NG_008001.2:g.28360C>G , LRG_325:g.28360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1566C>G (FLCN) MANE Select ENSP00000285071.4:p.Thr522=
ENST00000285071.8:c.1566C>G (FLCN) ENSP00000285071.4:p.Thr522=
ENST00000427497.3:c.*372+1156C>G ENSP00000394249.3:n.*372+1156C>G
ENST00000578209.5:c.562-3661G>C (MPRIP)
NM_144997.5:c.1566C>G , LRG_325t1:c.1566C>G (FLCN) NP_659434.2:p.Thr522=
XM_011523714.1:c.1620C>G (FLCN) XP_011522016.1:p.Thr540=
XM_011523715.1:c.1620C>G (FLCN) XP_011522017.1:p.Thr540=
XM_011523716.1:c.1620C>G (FLCN) XP_011522018.1:p.Thr540=
XM_011523717.1:c.1620C>G (FLCN) XP_011522019.1:p.Thr540=
XM_011523718.1:c.1620C>G (FLCN) XP_011522020.1:p.Thr540=
XM_011523719.1:c.1592+1156C>G (FLCN) XP_011522021.1:n.1592+1156C>G
XM_011523720.1:c.1344C>G (FLCN) XP_011522022.1:p.Thr448=
XM_011523721.1:c.1620C>G (FLCN) XP_011522023.1:p.Thr540=
XR_934007.1:n.2836C>G (FLCN)
NM_001353229.1:c.1620C>G (FLCN) NP_001340158.1:p.Thr540=
NM_001353230.1:c.1566C>G (FLCN) NP_001340159.1:p.Thr522=
NM_001353231.1:c.1566C>G (FLCN) NP_001340160.1:p.Thr522=
NM_144997.6:c.1566C>G (FLCN) NP_659434.2:p.Thr522=
XM_011523714.3:c.1620C>G (FLCN) XP_011522016.1:p.Thr540=
XM_011523718.3:c.1620C>G (FLCN) XP_011522020.1:p.Thr540=
XM_011523719.3:c.1592+1156C>G (FLCN) XP_011522021.1:n.1592+1156C>G
XM_011523721.3:c.1620C>G (FLCN) XP_011522023.1:p.Thr540=
XM_017024305.2:c.1620C>G (FLCN) XP_016879794.1:p.Thr540=
XM_017024308.1:c.1566C>G (FLCN) XP_016879797.1:p.Thr522=
XM_017024309.2:c.1344C>G (FLCN) XP_016879798.1:p.Thr448=
XM_024450635.1:c.1620C>G (FLCN) XP_024306403.1:p.Thr540=
XR_001752445.2:n.2000C>G (FLCN)
NM_144997.7:c.1566C>G (FLCN) MANE Select NP_659434.2:p.Thr522=
NM_001353229.2:c.1620C>G (FLCN) NP_001340158.1:p.Thr540=
NM_001353230.2:c.1566C>G (FLCN) NP_001340159.1:p.Thr522=
NM_001353231.2:c.1566C>G (FLCN) NP_001340160.1:p.Thr522=