Canonical Allele Identifier: CA398532382

Gene: FLCN MPRIP

Linked Data

• gnomAD v4: 17-17217169-G-A
• MyVariant Identifiers: chr17:g.17120483G>A (hg19) ; chr17:g.17217169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17217169G>A , CM000679.2:g.17217169G>A	GRCh38
NC_000017.10:g.17120483G>A , CM000679.1:g.17120483G>A	GRCh37
NC_000017.9:g.17061208G>A	NCBI36
NG_008001.2:g.25020C>T , LRG_325:g.25020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1076C>T (FLCN) MANE Select	ENSP00000285071.4:p.Pro359Leu
ENST00000285071.8:c.1076C>T (FLCN)	ENSP00000285071.4:p.Pro359Leu
ENST00000427497.3:c.198C>T	ENSP00000394249.3:p.Pro66=
ENST00000577591.1:n.99C>T (FLCN)
ENST00000578209.5:c.562-321G>A (MPRIP)
NM_144997.5:c.1076C>T , LRG_325t1:c.1076C>T (FLCN)	NP_659434.2:p.Pro359Leu
XM_011523714.1:c.1130C>T (FLCN)	XP_011522016.1:p.Pro377Leu
XM_011523715.1:c.1130C>T (FLCN)	XP_011522017.1:p.Pro377Leu
XM_011523716.1:c.1130C>T (FLCN)	XP_011522018.1:p.Pro377Leu
XM_011523717.1:c.1130C>T (FLCN)	XP_011522019.1:p.Pro377Leu
XM_011523718.1:c.1130C>T (FLCN)	XP_011522020.1:p.Pro377Leu
XM_011523719.1:c.1130C>T (FLCN)	XP_011522021.1:p.Pro377Leu
XM_011523720.1:c.854C>T (FLCN)	XP_011522022.1:p.Pro285Leu
XM_011523721.1:c.1130C>T (FLCN)	XP_011522023.1:p.Pro377Leu
XR_934007.1:n.2470C>T (FLCN)
NM_001353229.1:c.1130C>T (FLCN)	NP_001340158.1:p.Pro377Leu
NM_001353230.1:c.1076C>T (FLCN)	NP_001340159.1:p.Pro359Leu
NM_001353231.1:c.1076C>T (FLCN)	NP_001340160.1:p.Pro359Leu
NM_144997.6:c.1076C>T (FLCN)	NP_659434.2:p.Pro359Leu
XM_011523714.3:c.1130C>T (FLCN)	XP_011522016.1:p.Pro377Leu
XM_011523718.3:c.1130C>T (FLCN)	XP_011522020.1:p.Pro377Leu
XM_011523719.3:c.1130C>T (FLCN)	XP_011522021.1:p.Pro377Leu
XM_011523721.3:c.1130C>T (FLCN)	XP_011522023.1:p.Pro377Leu
XM_017024305.2:c.1130C>T (FLCN)	XP_016879794.1:p.Pro377Leu
XM_017024308.1:c.1076C>T (FLCN)	XP_016879797.1:p.Pro359Leu
XM_017024309.2:c.854C>T (FLCN)	XP_016879798.1:p.Pro285Leu
XM_024450635.1:c.1130C>T (FLCN)	XP_024306403.1:p.Pro377Leu
XR_001752445.2:n.1634C>T (FLCN)
NM_144997.7:c.1076C>T (FLCN) MANE Select	NP_659434.2:p.Pro359Leu
NM_001353229.2:c.1130C>T (FLCN)	NP_001340158.1:p.Pro377Leu
NM_001353230.2:c.1076C>T (FLCN)	NP_001340159.1:p.Pro359Leu
NM_001353231.2:c.1076C>T (FLCN)	NP_001340160.1:p.Pro359Leu