Canonical Allele Identifier: CA8415931

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 819626
• ClinVar RCV Id: RCV001012340 ; RCV001860702
• dbSNP Id: rs753023144
• ExAC: 17:17117115 T / G
• gnomAD v2: 17-17117115-T-G
• gnomAD v4: 17-17213801-T-G
• MyVariant Identifiers: chr17:g.17117115T>G (hg19) ; chr17:g.17213801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213801T>G , CM000679.2:g.17213801T>G	GRCh38
NC_000017.10:g.17117115T>G , CM000679.1:g.17117115T>G	GRCh37
NC_000017.9:g.17057840T>G	NCBI36
NG_008001.2:g.28388A>C , LRG_325:g.28388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1594A>C (FLCN) MANE Select	ENSP00000285071.4:p.Thr532Pro
ENST00000285071.8:c.1594A>C (FLCN)	ENSP00000285071.4:p.Thr532Pro
ENST00000427497.3:c.*372+1184A>C	ENSP00000394249.3:n.*372+1184A>C
ENST00000578209.5:c.562-3689T>G (MPRIP)
NM_144997.5:c.1594A>C , LRG_325t1:c.1594A>C (FLCN)	NP_659434.2:p.Thr532Pro
XM_011523714.1:c.1648A>C (FLCN)	XP_011522016.1:p.Thr550Pro
XM_011523715.1:c.1648A>C (FLCN)	XP_011522017.1:p.Thr550Pro
XM_011523716.1:c.1648A>C (FLCN)	XP_011522018.1:p.Thr550Pro
XM_011523717.1:c.1648A>C (FLCN)	XP_011522019.1:p.Thr550Pro
XM_011523718.1:c.1648A>C (FLCN)	XP_011522020.1:p.Thr550Pro
XM_011523719.1:c.1592+1184A>C (FLCN)	XP_011522021.1:n.1592+1184A>C
XM_011523720.1:c.1372A>C (FLCN)	XP_011522022.1:p.Thr458Pro
XM_011523721.1:c.1648A>C (FLCN)	XP_011522023.1:p.Thr550Pro
XR_934007.1:n.2864A>C (FLCN)
NM_001353229.1:c.1648A>C (FLCN)	NP_001340158.1:p.Thr550Pro
NM_001353230.1:c.1594A>C (FLCN)	NP_001340159.1:p.Thr532Pro
NM_001353231.1:c.1594A>C (FLCN)	NP_001340160.1:p.Thr532Pro
NM_144997.6:c.1594A>C (FLCN)	NP_659434.2:p.Thr532Pro
XM_011523714.3:c.1648A>C (FLCN)	XP_011522016.1:p.Thr550Pro
XM_011523718.3:c.1648A>C (FLCN)	XP_011522020.1:p.Thr550Pro
XM_011523719.3:c.1592+1184A>C (FLCN)	XP_011522021.1:n.1592+1184A>C
XM_011523721.3:c.1648A>C (FLCN)	XP_011522023.1:p.Thr550Pro
XM_017024305.2:c.1648A>C (FLCN)	XP_016879794.1:p.Thr550Pro
XM_017024308.1:c.1594A>C (FLCN)	XP_016879797.1:p.Thr532Pro
XM_017024309.2:c.1372A>C (FLCN)	XP_016879798.1:p.Thr458Pro
XM_024450635.1:c.1648A>C (FLCN)	XP_024306403.1:p.Thr550Pro
XR_001752445.2:n.2028A>C (FLCN)
NM_144997.7:c.1594A>C (FLCN) MANE Select	NP_659434.2:p.Thr532Pro
NM_001353229.2:c.1648A>C (FLCN)	NP_001340158.1:p.Thr550Pro
NM_001353230.2:c.1594A>C (FLCN)	NP_001340159.1:p.Thr532Pro
NM_001353231.2:c.1594A>C (FLCN)	NP_001340160.1:p.Thr532Pro