Canonical Allele Identifier: CA398530479

Gene: FLCN MPRIP

Linked Data

• dbSNP Id: rs2144812522
• MyVariant Identifiers: chr17:g.17117145T>A (hg19) ; chr17:g.17213831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213831T>A , CM000679.2:g.17213831T>A	GRCh38
NC_000017.10:g.17117145T>A , CM000679.1:g.17117145T>A	GRCh37
NC_000017.9:g.17057870T>A	NCBI36
NG_008001.2:g.28358A>T , LRG_325:g.28358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1564A>T (FLCN) MANE Select	ENSP00000285071.4:p.Thr522Ser
ENST00000285071.8:c.1564A>T (FLCN)	ENSP00000285071.4:p.Thr522Ser
ENST00000427497.3:c.*372+1154A>T	ENSP00000394249.3:n.*372+1154A>T
ENST00000578209.5:c.562-3659T>A (MPRIP)
NM_144997.5:c.1564A>T , LRG_325t1:c.1564A>T (FLCN)	NP_659434.2:p.Thr522Ser
XM_011523714.1:c.1618A>T (FLCN)	XP_011522016.1:p.Thr540Ser
XM_011523715.1:c.1618A>T (FLCN)	XP_011522017.1:p.Thr540Ser
XM_011523716.1:c.1618A>T (FLCN)	XP_011522018.1:p.Thr540Ser
XM_011523717.1:c.1618A>T (FLCN)	XP_011522019.1:p.Thr540Ser
XM_011523718.1:c.1618A>T (FLCN)	XP_011522020.1:p.Thr540Ser
XM_011523719.1:c.1592+1154A>T (FLCN)	XP_011522021.1:n.1592+1154A>T
XM_011523720.1:c.1342A>T (FLCN)	XP_011522022.1:p.Thr448Ser
XM_011523721.1:c.1618A>T (FLCN)	XP_011522023.1:p.Thr540Ser
XR_934007.1:n.2834A>T (FLCN)
NM_001353229.1:c.1618A>T (FLCN)	NP_001340158.1:p.Thr540Ser
NM_001353230.1:c.1564A>T (FLCN)	NP_001340159.1:p.Thr522Ser
NM_001353231.1:c.1564A>T (FLCN)	NP_001340160.1:p.Thr522Ser
NM_144997.6:c.1564A>T (FLCN)	NP_659434.2:p.Thr522Ser
XM_011523714.3:c.1618A>T (FLCN)	XP_011522016.1:p.Thr540Ser
XM_011523718.3:c.1618A>T (FLCN)	XP_011522020.1:p.Thr540Ser
XM_011523719.3:c.1592+1154A>T (FLCN)	XP_011522021.1:n.1592+1154A>T
XM_011523721.3:c.1618A>T (FLCN)	XP_011522023.1:p.Thr540Ser
XM_017024305.2:c.1618A>T (FLCN)	XP_016879794.1:p.Thr540Ser
XM_017024308.1:c.1564A>T (FLCN)	XP_016879797.1:p.Thr522Ser
XM_017024309.2:c.1342A>T (FLCN)	XP_016879798.1:p.Thr448Ser
XM_024450635.1:c.1618A>T (FLCN)	XP_024306403.1:p.Thr540Ser
XR_001752445.2:n.1998A>T (FLCN)
NM_144997.7:c.1564A>T (FLCN) MANE Select	NP_659434.2:p.Thr522Ser
NM_001353229.2:c.1618A>T (FLCN)	NP_001340158.1:p.Thr540Ser
NM_001353230.2:c.1564A>T (FLCN)	NP_001340159.1:p.Thr522Ser
NM_001353231.2:c.1564A>T (FLCN)	NP_001340160.1:p.Thr522Ser