Canonical Allele Identifier: CA498162987

Linked Data

MyVariant Identifiers: chr17:g.17116978A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213664A>T , CM000679.2:g.17213664A>T GRCh38
NC_000017.10:g.17116978A>T , CM000679.1:g.17116978A>T GRCh37
NC_000017.9:g.17057703A>T NCBI36
NG_008001.2:g.28525T>A , LRG_325:g.28525T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1731T>A (FLCN) MANE Select ENSP00000285071.4:p.Ser577=
ENST00000285071.8:c.1731T>A (FLCN) ENSP00000285071.4:p.Ser577=
ENST00000427497.3:c.*372+1321T>A ENSP00000394249.3:n.*372+1321T>A
ENST00000578209.5:c.562-3826A>T (MPRIP)
NM_144997.5:c.1731T>A , LRG_325t1:c.1731T>A (FLCN) NP_659434.2:p.Ser577=
XM_011523714.1:c.1785T>A (FLCN) XP_011522016.1:p.Ser595=
XM_011523715.1:c.1785T>A (FLCN) XP_011522017.1:p.Ser595=
XM_011523716.1:c.1785T>A (FLCN) XP_011522018.1:p.Ser595=
XM_011523717.1:c.1785T>A (FLCN) XP_011522019.1:p.Ser595=
XM_011523718.1:c.1785T>A (FLCN) XP_011522020.1:p.Ser595=
XM_011523719.1:c.1592+1321T>A (FLCN) XP_011522021.1:n.1592+1321T>A
XM_011523720.1:c.1509T>A (FLCN) XP_011522022.1:p.Ser503=
XM_011523721.1:c.1785T>A (FLCN) XP_011522023.1:p.Ser595=
NM_001353229.1:c.1785T>A (FLCN) NP_001340158.1:p.Ser595=
NM_001353230.1:c.1731T>A (FLCN) NP_001340159.1:p.Ser577=
NM_001353231.1:c.1731T>A (FLCN) NP_001340160.1:p.Ser577=
NM_144997.6:c.1731T>A (FLCN) NP_659434.2:p.Ser577=
XM_011523714.3:c.1785T>A (FLCN) XP_011522016.1:p.Ser595=
XM_011523718.3:c.1785T>A (FLCN) XP_011522020.1:p.Ser595=
XM_011523719.3:c.1592+1321T>A (FLCN) XP_011522021.1:n.1592+1321T>A
XM_011523721.3:c.1785T>A (FLCN) XP_011522023.1:p.Ser595=
XM_017024305.2:c.1785T>A (FLCN) XP_016879794.1:p.Ser595=
XM_017024308.1:c.1731T>A (FLCN) XP_016879797.1:p.Ser577=
XM_017024309.2:c.1509T>A (FLCN) XP_016879798.1:p.Ser503=
XM_024450635.1:c.1785T>A (FLCN) XP_024306403.1:p.Ser595=
XR_001752445.2:n.2165T>A (FLCN)
NM_144997.7:c.1731T>A (FLCN) MANE Select NP_659434.2:p.Ser577=
NM_001353229.2:c.1785T>A (FLCN) NP_001340158.1:p.Ser595=
NM_001353230.2:c.1731T>A (FLCN) NP_001340159.1:p.Ser577=
NM_001353231.2:c.1731T>A (FLCN) NP_001340160.1:p.Ser577=