Canonical Allele Identifier: CA365227561
Community Standard Title: NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109765047T>G , CM000668.2:g.109765047T>G GRCh38
NC_000006.11:g.110086250T>G , CM000668.1:g.110086250T>G GRCh37
NC_000006.10:g.110192943T>G NCBI36
NG_007977.1:g.78827T>G , LRG_241:g.78827T>G

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1469T>G MANE Select NP_055660.1:p.Leu490Ter
ENST00000230124.8:c.1469T>G MANE Select ENSP00000230124.4:p.Leu490Ter
NM_014845.5:c.1469T>G , LRG_241t1:c.1469T>G NP_055660.1:p.Leu490Ter
ENST00000230124.7:c.1469T>G ENSP00000230124.3:p.Leu490Ter
ENST00000415980.2:c.-26T>G ENSP00000405660.2:n.-26T>G
ENST00000674532.1:n.4665T>G
ENST00000674557.1:c.*901T>G ENSP00000501608.1:n.*901T>G
ENST00000674569.1:c.*588T>G ENSP00000502769.1:n.*588T>G
ENST00000674571.1:c.*588T>G ENSP00000501633.1:n.*588T>G
ENST00000674575.1:c.*588T>G ENSP00000502276.1:n.*588T>G
ENST00000674641.1:c.1124T>G ENSP00000501609.1:p.Leu375Ter
ENST00000674644.1:c.539T>G ENSP00000502201.1:p.Leu180Ter
ENST00000674649.1:c.*1162T>G ENSP00000501669.1:n.*1162T>G
ENST00000674657.1:c.*901T>G ENSP00000502314.1:n.*901T>G
ENST00000674744.1:c.1463T>G ENSP00000501661.1:p.Leu488Ter
ENST00000674778.1:c.*588T>G ENSP00000502742.1:n.*588T>G
ENST00000674783.1:c.*384T>G ENSP00000502755.1:n.*384T>G
ENST00000674884.1:c.1487T>G ENSP00000502668.1:p.Leu496Ter
ENST00000674930.1:c.*594T>G ENSP00000502657.1:n.*594T>G
ENST00000674933.1:c.1238T>G ENSP00000502376.1:p.Leu413Ter
ENST00000674956.1:c.*683T>G ENSP00000501904.1:n.*683T>G
ENST00000675004.1:c.*1421T>G ENSP00000501868.1:n.*1421T>G
ENST00000675009.1:c.*853T>G ENSP00000502098.1:n.*853T>G
ENST00000675096.1:c.1469T>G ENSP00000502116.1:p.Leu490Ter
ENST00000675122.1:c.1469T>G ENSP00000501810.1:p.Leu490Ter
ENST00000675153.1:c.*186T>G ENSP00000501682.1:n.*186T>G
ENST00000675272.1:n.5767T>G
ENST00000675284.1:c.1469T>G ENSP00000502758.1:p.Leu490Ter
ENST00000675311.1:c.*671T>G ENSP00000501961.1:n.*671T>G
ENST00000675426.1:c.*537T>G ENSP00000501819.1:n.*537T>G
ENST00000675523.1:c.1238T>G ENSP00000502384.1:p.Leu413Ter
ENST00000675552.1:c.*588T>G ENSP00000502197.1:n.*588T>G
ENST00000675681.1:c.1469T>G ENSP00000502705.1:p.Leu490Ter
ENST00000675714.1:c.1469T>G ENSP00000502561.1:p.Leu490Ter
ENST00000675726.1:c.1469T>G ENSP00000502452.1:p.Leu490Ter
ENST00000675772.1:c.1469T>G ENSP00000501678.1:p.Leu490Ter
ENST00000675831.1:c.1076T>G ENSP00000502382.1:p.Leu359Ter
ENST00000675847.1:n.1593T>G
ENST00000675849.1:n.1091T>G
ENST00000675879.1:c.198T>G
ENST00000675887.1:c.*1072T>G ENSP00000502123.1:n.*1072T>G
ENST00000675973.1:c.1340T>G ENSP00000502407.1:p.Leu447Ter
ENST00000675991.1:c.*588T>G ENSP00000502162.1:n.*588T>G
ENST00000675994.1:c.*588T>G ENSP00000502419.1:n.*588T>G
ENST00000676021.1:c.*186T>G ENSP00000502746.1:n.*186T>G
ENST00000676037.1:c.1469T>G ENSP00000502181.1:p.Leu490Ter
ENST00000676136.1:n.1609T>G
ENST00000676442.1:c.1340T>G ENSP00000502595.1:p.Leu447Ter
XM_011536281.1:c.1406T>G XP_011534583.1:p.Leu469Ter
XM_011536281.3:c.1406T>G XP_011534583.1:p.Leu469Ter
XM_017011591.2:c.1469T>G XP_016867080.1:p.Leu490Ter
XM_017011592.1:c.920T>G XP_016867081.1:p.Leu307Ter
XM_017011593.2:c.539T>G XP_016867082.1:p.Leu180Ter