Canonical Allele Identifier: CA1803228185
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93786330A= , CM000670.2:g.93786330A= GRCh38
NC_000008.10:g.94798558A= , CM000670.1:g.94798558A= GRCh37
NC_000008.9:g.94867734A= NCBI36
NG_009190.1:g.36487A= , LRG_688:g.36487A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.1396A= ENSP00000314488.4:p.Thr466=
ENST00000409623.8:c.1351A= ENSP00000386966.4:p.Thr451=
ENST00000452276.6:c.1396A= ENSP00000388671.2:p.Thr466=
ENST00000453906.6:c.514A= ENSP00000403035.2:p.Thr172=
ENST00000520680.2:c.1396A= ENSP00000428785.2:p.Thr466=
ENST00000521517.6:c.1396A= ENSP00000430740.2:p.Thr466=
ENST00000681998.1:c.1217A= ENSP00000506773.1:n.1217A=
ENST00000682036.1:c.514A= ENSP00000508390.1:p.Thr172=
ENST00000682577.1:c.1169A= ENSP00000506963.1:n.1169A=
ENST00000682624.1:c.*970A= ENSP00000508343.1:n.*970A=
ENST00000682700.1:c.1396A= ENSP00000507627.1:p.Thr466=
ENST00000682744.1:n.934A=
ENST00000682804.1:n.1219A=
ENST00000682837.1:c.885A= ENSP00000507920.1:n.885A=
ENST00000682935.1:n.3446A=
ENST00000682984.1:c.1057A= ENSP00000507209.1:p.Thr353=
ENST00000683078.1:c.1151A= ENSP00000506796.1:n.1151A=
ENST00000683223.1:c.1128A= ENSP00000507685.1:n.1128A=
ENST00000683238.1:n.2620A=
ENST00000683249.1:n.2993A=
ENST00000683336.1:c.1217A= ENSP00000507695.1:n.1217A=
ENST00000683362.1:c.1057A= ENSP00000506985.1:p.Thr353=
ENST00000683850.1:n.1319A=
ENST00000683919.1:c.1326A= ENSP00000507617.1:n.1326A=
ENST00000683953.1:c.1307A= ENSP00000508375.1:n.1307A=
ENST00000684023.1:c.1373A= ENSP00000507461.1:n.1373A=
ENST00000684064.1:c.1087A= ENSP00000508192.1:p.Thr363=
ENST00000684089.1:n.2946A=
ENST00000684149.1:c.*575A= ENSP00000507943.1:n.*575A=
ENST00000684416.1:n.1355A=
ENST00000684540.1:c.1326A= ENSP00000507987.1:n.1326A=
ENST00000453321.8:c.1396A= MANE Select ENSP00000389998.3:p.Thr466=
ENST00000323130.7:c.1366A= ENSP00000314488.3:p.Thr456=
ENST00000409623.7:c.1153A= ENSP00000386966.3:p.Thr385=
ENST00000452276.5:c.1087A= ENSP00000388671.1:p.Thr363=
ENST00000453321.7:c.1396A= ENSP00000389998.3:p.Thr466=
ENST00000453906.5:c.514A= ENSP00000403035.1:p.Thr172=
ENST00000474944.5:n.534A=
ENST00000520680.1:c.218A=
NM_001142301.1:c.1153A= , LRG_688t2:c.1153A= NP_001135773.1:p.Thr385=
NM_153704.5:c.1396A= , LRG_688t1:c.1396A= NP_714915.3:p.Thr466=
NR_024522.1:n.1467A=
XM_006716686.2:c.1093A= XP_006716749.1:p.Thr365=
XM_006716687.2:c.796A= XP_006716750.1:p.Thr266=
XM_011517363.1:c.514A= XP_011515665.1:p.Thr172=
XR_428387.1:n.1454A=
XR_928360.1:n.1454A=
XR_928361.1:n.1454A=
XR_928362.1:n.1454A=
XM_006716686.4:c.1093A= XP_006716749.1:p.Thr365=
XM_011517363.3:c.514A= XP_011515665.1:p.Thr172=
XM_024447326.1:c.742A= XP_024303094.1:p.Thr248=
XR_001745619.2:n.1437A=
XR_428387.2:n.1437A=
XR_928360.3:n.1437A=
XR_928362.3:n.1437A=
NM_153704.6:c.1396A= MANE Select NP_714915.3:p.Thr466=
NR_024522.2:n.1417A=