Canonical Allele Identifier: CA288303611

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 485623
• ClinVar RCV Id: RCV000570485 ; RCV003952917 ; RCV002528986
• dbSNP Id: rs978355107
• MyVariant Identifiers: chr17:g.17117062C>A (hg19) ; chr17:g.17213748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213748C>A , CM000679.2:g.17213748C>A	GRCh38
NC_000017.10:g.17117062C>A , CM000679.1:g.17117062C>A	GRCh37
NC_000017.9:g.17057787C>A	NCBI36
NG_008001.2:g.28441G>T , LRG_325:g.28441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1647G>T (FLCN) MANE Select	ENSP00000285071.4:p.Leu549=
ENST00000285071.8:c.1647G>T (FLCN)	ENSP00000285071.4:p.Leu549=
ENST00000427497.3:c.*372+1237G>T	ENSP00000394249.3:n.*372+1237G>T
ENST00000578209.5:c.562-3742C>A (MPRIP)
NM_144997.5:c.1647G>T , LRG_325t1:c.1647G>T (FLCN)	NP_659434.2:p.Leu549=
XM_011523714.1:c.1701G>T (FLCN)	XP_011522016.1:p.Leu567=
XM_011523715.1:c.1701G>T (FLCN)	XP_011522017.1:p.Leu567=
XM_011523716.1:c.1701G>T (FLCN)	XP_011522018.1:p.Leu567=
XM_011523717.1:c.1701G>T (FLCN)	XP_011522019.1:p.Leu567=
XM_011523718.1:c.1701G>T (FLCN)	XP_011522020.1:p.Leu567=
XM_011523719.1:c.1592+1237G>T (FLCN)	XP_011522021.1:n.1592+1237G>T
XM_011523720.1:c.1425G>T (FLCN)	XP_011522022.1:p.Leu475=
XM_011523721.1:c.1701G>T (FLCN)	XP_011522023.1:p.Leu567=
XR_934007.1:n.2917G>T (FLCN)
NM_001353229.1:c.1701G>T (FLCN)	NP_001340158.1:p.Leu567=
NM_001353230.1:c.1647G>T (FLCN)	NP_001340159.1:p.Leu549=
NM_001353231.1:c.1647G>T (FLCN)	NP_001340160.1:p.Leu549=
NM_144997.6:c.1647G>T (FLCN)	NP_659434.2:p.Leu549=
XM_011523714.3:c.1701G>T (FLCN)	XP_011522016.1:p.Leu567=
XM_011523718.3:c.1701G>T (FLCN)	XP_011522020.1:p.Leu567=
XM_011523719.3:c.1592+1237G>T (FLCN)	XP_011522021.1:n.1592+1237G>T
XM_011523721.3:c.1701G>T (FLCN)	XP_011522023.1:p.Leu567=
XM_017024305.2:c.1701G>T (FLCN)	XP_016879794.1:p.Leu567=
XM_017024308.1:c.1647G>T (FLCN)	XP_016879797.1:p.Leu549=
XM_017024309.2:c.1425G>T (FLCN)	XP_016879798.1:p.Leu475=
XM_024450635.1:c.1701G>T (FLCN)	XP_024306403.1:p.Leu567=
XR_001752445.2:n.2081G>T (FLCN)
NM_144997.7:c.1647G>T (FLCN) MANE Select	NP_659434.2:p.Leu549=
NM_001353229.2:c.1701G>T (FLCN)	NP_001340158.1:p.Leu567=
NM_001353230.2:c.1647G>T (FLCN)	NP_001340159.1:p.Leu549=
NM_001353231.2:c.1647G>T (FLCN)	NP_001340160.1:p.Leu549=