Canonical Allele Identifier: CA10586257

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 253246
• ClinVar RCV Id: RCV000239663 ; RCV000493637
• dbSNP Id: rs879255674
• MyVariant Identifiers: chr17:g.17119741A>G (hg19) ; chr17:g.17216427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17216427A>G , CM000679.2:g.17216427A>G	GRCh38
NC_000017.10:g.17119741A>G , CM000679.1:g.17119741A>G	GRCh37
NC_000017.9:g.17060466A>G	NCBI36
NG_008001.2:g.25762T>C , LRG_325:g.25762T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1253T>C (FLCN) MANE Select	ENSP00000285071.4:p.Leu418Pro
ENST00000285071.8:c.1253T>C (FLCN)	ENSP00000285071.4:p.Leu418Pro
ENST00000427497.3:c.*87T>C	ENSP00000394249.3:n.*87T>C
ENST00000578209.5:c.562-1063A>G (MPRIP)
NM_144997.5:c.1253T>C , LRG_325t1:c.1253T>C (FLCN)	NP_659434.2:p.Leu418Pro
XM_011523714.1:c.1307T>C (FLCN)	XP_011522016.1:p.Leu436Pro
XM_011523715.1:c.1307T>C (FLCN)	XP_011522017.1:p.Leu436Pro
XM_011523716.1:c.1307T>C (FLCN)	XP_011522018.1:p.Leu436Pro
XM_011523717.1:c.1307T>C (FLCN)	XP_011522019.1:p.Leu436Pro
XM_011523718.1:c.1307T>C (FLCN)	XP_011522020.1:p.Leu436Pro
XM_011523719.1:c.1307T>C (FLCN)	XP_011522021.1:p.Leu436Pro
XM_011523720.1:c.1031T>C (FLCN)	XP_011522022.1:p.Leu344Pro
XM_011523721.1:c.1307T>C (FLCN)	XP_011522023.1:p.Leu436Pro
XR_934007.1:n.2570+642T>C (FLCN)
NM_001353229.1:c.1307T>C (FLCN)	NP_001340158.1:p.Leu436Pro
NM_001353230.1:c.1253T>C (FLCN)	NP_001340159.1:p.Leu418Pro
NM_001353231.1:c.1253T>C (FLCN)	NP_001340160.1:p.Leu418Pro
NM_144997.6:c.1253T>C (FLCN)	NP_659434.2:p.Leu418Pro
XM_011523714.3:c.1307T>C (FLCN)	XP_011522016.1:p.Leu436Pro
XM_011523718.3:c.1307T>C (FLCN)	XP_011522020.1:p.Leu436Pro
XM_011523719.3:c.1307T>C (FLCN)	XP_011522021.1:p.Leu436Pro
XM_011523721.3:c.1307T>C (FLCN)	XP_011522023.1:p.Leu436Pro
XM_017024305.2:c.1307T>C (FLCN)	XP_016879794.1:p.Leu436Pro
XM_017024308.1:c.1253T>C (FLCN)	XP_016879797.1:p.Leu418Pro
XM_017024309.2:c.1031T>C (FLCN)	XP_016879798.1:p.Leu344Pro
XM_024450635.1:c.1307T>C (FLCN)	XP_024306403.1:p.Leu436Pro
XR_001752445.2:n.1734+642T>C (FLCN)
NM_144997.7:c.1253T>C (FLCN) MANE Select	NP_659434.2:p.Leu418Pro
NM_001353229.2:c.1307T>C (FLCN)	NP_001340158.1:p.Leu436Pro
NM_001353230.2:c.1253T>C (FLCN)	NP_001340159.1:p.Leu418Pro
NM_001353231.2:c.1253T>C (FLCN)	NP_001340160.1:p.Leu418Pro