Canonical Allele Identifier: CA867476704
Gene: TLE1 HGNC NCBI

Linked Data

dbSNP Id: rs815847
gnomAD v3: 9-81607703-G-C
gnomAD v4: 9-81607703-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.81607703G>C , CM000671.2:g.81607703G>C GRCh38
NC_000009.11:g.84222618G>C , CM000671.1:g.84222618G>C GRCh37
NC_000009.10:g.83412438G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376484.2:c.413+2517C>G ENSP00000365667.2:n.413+2517C>G
ENST00000376499.8:c.1331+2517C>G MANE Select ENSP00000365682.3:n.1331+2517C>G
ENST00000376472.5:c.1328+2517C>G ENSP00000365655.2:n.1328+2517C>G
ENST00000376484.1:c.356+2517C>G ENSP00000365667.1:n.356+2517C>G
ENST00000376499.7:c.1331+2517C>G ENSP00000365682.3:n.1331+2517C>G
NM_001303103.1:c.1361+2517C>G NP_001290032.1:n.1361+2517C>G
NM_001303104.1:c.1286+2517C>G NP_001290033.1:n.1286+2517C>G
NM_005077.4:c.1331+2517C>G NP_005068.2:n.1331+2517C>G
XM_005252151.1:c.1463+2517C>G XP_005252208.1:n.1463+2517C>G
XM_005252152.1:c.1460+2517C>G XP_005252209.1:n.1460+2517C>G
XM_005252153.1:c.1433+2517C>G XP_005252210.1:n.1433+2517C>G
XM_005252154.1:c.1430+2517C>G XP_005252211.1:n.1430+2517C>G
XM_005252156.1:c.1358+2517C>G XP_005252213.1:n.1358+2517C>G
XM_005252162.1:c.1211+2517C>G XP_005252219.1:n.1211+2517C>G
XM_005252163.1:c.1109+2517C>G XP_005252220.1:n.1109+2517C>G
XM_006717258.1:c.1460+2517C>G XP_006717321.1:n.1460+2517C>G
XM_006717259.2:c.1295+2517C>G XP_006717322.1:n.1295+2517C>G
XM_006717260.1:c.1241+2517C>G XP_006717323.1:n.1241+2517C>G
XM_006717261.2:c.1118+2517C>G XP_006717324.1:n.1118+2517C>G
XM_006717262.1:c.1328+2517C>G XP_006717325.1:n.1328+2517C>G
XM_006717263.1:c.1325+2517C>G XP_006717326.1:n.1325+2517C>G
XM_011518951.1:c.1328+2517C>G XP_011517253.1:n.1328+2517C>G
XM_005252156.3:c.1358+2517C>G XP_005252213.1:n.1358+2517C>G
XM_005252163.2:c.1109+2517C>G XP_005252220.1:n.1109+2517C>G
XM_006717259.4:c.1295+2517C>G XP_006717322.1:n.1295+2517C>G
XM_011518951.2:c.1328+2517C>G XP_011517253.1:n.1328+2517C>G
XM_017015064.1:c.1358+2517C>G XP_016870553.1:n.1358+2517C>G
XM_017015065.1:c.1355+2517C>G XP_016870554.1:n.1355+2517C>G
XM_017015066.1:c.1193+2517C>G XP_016870555.1:n.1193+2517C>G
NM_005077.5:c.1331+2517C>G MANE Select NP_005068.2:n.1331+2517C>G
NM_001303103.2:c.1361+2517C>G NP_001290032.1:n.1361+2517C>G
NM_001303104.2:c.1286+2517C>G NP_001290033.1:n.1286+2517C>G