Canonical Allele Identifier: CA1803221825
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780893C= , CM000670.2:g.93780893C= GRCh38
NC_000008.10:g.94793121C= , CM000670.1:g.94793121C= GRCh37
NC_000008.9:g.94862297C= NCBI36
NG_009190.1:g.31050C= , LRG_688:g.31050C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.889C= ENSP00000314488.4:p.Leu297=
ENST00000409623.8:c.889C= ENSP00000386966.4:p.Leu297=
ENST00000452276.6:c.889C= ENSP00000388671.2:p.Leu297=
ENST00000453906.6:c.407-5330C= ENSP00000403035.2:n.407-5330C=
ENST00000520680.2:c.889C= ENSP00000428785.2:p.Leu297=
ENST00000521065.2:c.*606C= ENSP00000427947.2:n.*606C=
ENST00000521517.6:c.889C= ENSP00000430740.2:p.Leu297=
ENST00000681998.1:c.799+146C= ENSP00000506773.1:n.799+146C=
ENST00000682036.1:c.407-5330C= ENSP00000508390.1:n.407-5330C=
ENST00000682577.1:c.819C= ENSP00000506963.1:n.819C=
ENST00000682624.1:c.*463C= ENSP00000508343.1:n.*463C=
ENST00000682700.1:c.889C= ENSP00000507627.1:p.Leu297=
ENST00000682744.1:n.427C=
ENST00000682804.1:n.712C=
ENST00000682837.1:c.624+146C= ENSP00000507920.1:n.624+146C=
ENST00000682935.1:n.2449C=
ENST00000682984.1:c.550C= ENSP00000507209.1:p.Leu184=
ENST00000683078.1:c.644C= ENSP00000506796.1:n.644C=
ENST00000683223.1:c.710+146C= ENSP00000507685.1:n.710+146C=
ENST00000683238.1:n.2270C=
ENST00000683249.1:n.2486C=
ENST00000683336.1:c.799+146C= ENSP00000507695.1:n.799+146C=
ENST00000683362.1:c.550C= ENSP00000506985.1:p.Leu184=
ENST00000683850.1:n.812C=
ENST00000683919.1:c.819C= ENSP00000507617.1:n.819C=
ENST00000683953.1:c.800C= ENSP00000508375.1:n.800C=
ENST00000684023.1:c.1023C= ENSP00000507461.1:n.1023C=
ENST00000684064.1:c.580C= ENSP00000508192.1:p.Leu194=
ENST00000684089.1:n.2439C=
ENST00000684149.1:c.*225C= ENSP00000507943.1:n.*225C=
ENST00000684416.1:n.848C=
ENST00000684540.1:c.819C= ENSP00000507987.1:n.819C=
ENST00000453321.8:c.889C= MANE Select ENSP00000389998.3:p.Leu297=
ENST00000323130.7:c.859C= ENSP00000314488.3:p.Leu287=
ENST00000409623.7:c.646C= ENSP00000386966.3:p.Leu216=
ENST00000425545.2:n.336C=
ENST00000452276.5:c.580C= ENSP00000388671.1:p.Leu194=
ENST00000453321.7:c.889C= ENSP00000389998.3:p.Leu297=
ENST00000453906.5:c.407-5330C= ENSP00000403035.1:n.407-5330C=
ENST00000474944.5:n.427-5330C=
ENST00000496213.5:n.354C=
NM_001142301.1:c.646C= , LRG_688t2:c.646C= NP_001135773.1:p.Leu216=
NM_153704.5:c.889C= , LRG_688t1:c.889C= NP_714915.3:p.Leu297=
NR_024522.1:n.960C=
XM_006716686.2:c.586C= XP_006716749.1:p.Leu196=
XM_006716687.2:c.289C= XP_006716750.1:p.Leu97=
XM_011517363.1:c.407-5330C= XP_011515665.1:n.407-5330C=
XR_428387.1:n.947C=
XR_928360.1:n.947C=
XR_928361.1:n.947C=
XR_928362.1:n.947C=
XM_006716686.4:c.586C= XP_006716749.1:p.Leu196=
XM_011517363.3:c.407-5330C= XP_011515665.1:n.407-5330C=
XM_024447326.1:c.235C= XP_024303094.1:p.Leu79=
XR_001745619.2:n.930C=
XR_428387.2:n.930C=
XR_928360.3:n.930C=
XR_928362.3:n.930C=
NM_153704.6:c.889C= MANE Select NP_714915.3:p.Leu297=
NR_024522.2:n.910C=