Canonical Allele Identifier: CA371688238
Gene: TMEM67 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780894T>C , CM000670.2:g.93780894T>C GRCh38
NC_000008.10:g.94793122T>C , CM000670.1:g.94793122T>C GRCh37
NC_000008.9:g.94862298T>C NCBI36
NG_009190.1:g.31051T>C , LRG_688:g.31051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.890T>C ENSP00000314488.4:p.Leu297Pro
ENST00000409623.8:c.890T>C ENSP00000386966.4:p.Leu297Pro
ENST00000452276.6:c.890T>C ENSP00000388671.2:p.Leu297Pro
ENST00000453906.6:c.407-5329T>C ENSP00000403035.2:n.407-5329T>C
ENST00000520680.2:c.890T>C ENSP00000428785.2:p.Leu297Pro
ENST00000521065.2:c.*607T>C ENSP00000427947.2:n.*607T>C
ENST00000521517.6:c.890T>C ENSP00000430740.2:p.Leu297Pro
ENST00000681998.1:c.799+147T>C ENSP00000506773.1:n.799+147T>C
ENST00000682036.1:c.407-5329T>C ENSP00000508390.1:n.407-5329T>C
ENST00000682577.1:c.820T>C ENSP00000506963.1:n.820T>C
ENST00000682624.1:c.*464T>C ENSP00000508343.1:n.*464T>C
ENST00000682700.1:c.890T>C ENSP00000507627.1:p.Leu297Pro
ENST00000682744.1:n.428T>C
ENST00000682804.1:n.713T>C
ENST00000682837.1:c.624+147T>C ENSP00000507920.1:n.624+147T>C
ENST00000682935.1:n.2450T>C
ENST00000682984.1:c.551T>C ENSP00000507209.1:p.Leu184Pro
ENST00000683078.1:c.645T>C ENSP00000506796.1:n.645T>C
ENST00000683223.1:c.710+147T>C ENSP00000507685.1:n.710+147T>C
ENST00000683238.1:n.2271T>C
ENST00000683249.1:n.2487T>C
ENST00000683336.1:c.799+147T>C ENSP00000507695.1:n.799+147T>C
ENST00000683362.1:c.551T>C ENSP00000506985.1:p.Leu184Pro
ENST00000683850.1:n.813T>C
ENST00000683919.1:c.820T>C ENSP00000507617.1:n.820T>C
ENST00000683953.1:c.801T>C ENSP00000508375.1:n.801T>C
ENST00000684023.1:c.1024T>C ENSP00000507461.1:n.1024T>C
ENST00000684064.1:c.581T>C ENSP00000508192.1:p.Leu194Pro
ENST00000684089.1:n.2440T>C
ENST00000684149.1:c.*226T>C ENSP00000507943.1:n.*226T>C
ENST00000684416.1:n.849T>C
ENST00000684540.1:c.820T>C ENSP00000507987.1:n.820T>C
ENST00000453321.8:c.890T>C MANE Select ENSP00000389998.3:p.Leu297Pro
ENST00000323130.7:c.860T>C ENSP00000314488.3:p.Leu287Pro
ENST00000409623.7:c.647T>C ENSP00000386966.3:p.Leu216Pro
ENST00000425545.2:n.337T>C
ENST00000452276.5:c.581T>C ENSP00000388671.1:p.Leu194Pro
ENST00000453321.7:c.890T>C ENSP00000389998.3:p.Leu297Pro
ENST00000453906.5:c.407-5329T>C ENSP00000403035.1:n.407-5329T>C
ENST00000474944.5:n.427-5329T>C
ENST00000496213.5:n.355T>C
NM_001142301.1:c.647T>C , LRG_688t2:c.647T>C NP_001135773.1:p.Leu216Pro
NM_153704.5:c.890T>C , LRG_688t1:c.890T>C NP_714915.3:p.Leu297Pro
NR_024522.1:n.961T>C
XM_006716686.2:c.587T>C XP_006716749.1:p.Leu196Pro
XM_006716687.2:c.290T>C XP_006716750.1:p.Leu97Pro
XM_011517363.1:c.407-5329T>C XP_011515665.1:n.407-5329T>C
XR_428387.1:n.948T>C
XR_928360.1:n.948T>C
XR_928361.1:n.948T>C
XR_928362.1:n.948T>C
XM_006716686.4:c.587T>C XP_006716749.1:p.Leu196Pro
XM_011517363.3:c.407-5329T>C XP_011515665.1:n.407-5329T>C
XM_024447326.1:c.236T>C XP_024303094.1:p.Leu79Pro
XR_001745619.2:n.931T>C
XR_428387.2:n.931T>C
XR_928360.3:n.931T>C
XR_928362.3:n.931T>C
NM_153704.6:c.890T>C MANE Select NP_714915.3:p.Leu297Pro
NR_024522.2:n.911T>C