Canonical Allele Identifier: CA371687806
Gene: TMEM67 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780647A>C , CM000670.2:g.93780647A>C GRCh38
NC_000008.10:g.94792875A>C , CM000670.1:g.94792875A>C GRCh37
NC_000008.9:g.94862051A>C NCBI36
NG_009190.1:g.30804A>C , LRG_688:g.30804A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.769A>C ENSP00000314488.4:p.Met257Leu
ENST00000409623.8:c.769A>C ENSP00000386966.4:p.Met257Leu
ENST00000452276.6:c.769A>C ENSP00000388671.2:p.Met257Leu
ENST00000453906.6:c.407-5576A>C ENSP00000403035.2:n.407-5576A>C
ENST00000520680.2:c.769A>C ENSP00000428785.2:p.Met257Leu
ENST00000521065.2:c.*486A>C ENSP00000427947.2:n.*486A>C
ENST00000521517.6:c.769A>C ENSP00000430740.2:p.Met257Leu
ENST00000681998.1:c.699A>C ENSP00000506773.1:n.699A>C
ENST00000682036.1:c.407-5576A>C ENSP00000508390.1:n.407-5576A>C
ENST00000682577.1:c.699A>C ENSP00000506963.1:n.699A>C
ENST00000682624.1:c.*343A>C ENSP00000508343.1:n.*343A>C
ENST00000682700.1:c.769A>C ENSP00000507627.1:p.Met257Leu
ENST00000682744.1:n.307A>C
ENST00000682804.1:n.592A>C
ENST00000682837.1:c.524A>C ENSP00000507920.1:p.His175Pro
ENST00000682935.1:n.2329A>C
ENST00000682984.1:c.430A>C ENSP00000507209.1:p.Met144Leu
ENST00000683078.1:c.524A>C ENSP00000506796.1:p.His175Pro
ENST00000683223.1:c.610A>C ENSP00000507685.1:n.610A>C
ENST00000683238.1:n.2150A>C
ENST00000683249.1:n.2350A>C
ENST00000683336.1:c.699A>C ENSP00000507695.1:n.699A>C
ENST00000683362.1:c.430A>C ENSP00000506985.1:p.Met144Leu
ENST00000683850.1:n.692A>C
ENST00000683919.1:c.699A>C ENSP00000507617.1:n.699A>C
ENST00000683953.1:c.680A>C ENSP00000508375.1:n.680A>C
ENST00000684023.1:c.903A>C ENSP00000507461.1:n.903A>C
ENST00000684064.1:c.460A>C ENSP00000508192.1:p.Met154Leu
ENST00000684089.1:n.2319A>C
ENST00000684149.1:c.*105A>C ENSP00000507943.1:n.*105A>C
ENST00000684416.1:n.728A>C
ENST00000684540.1:c.699A>C ENSP00000507987.1:n.699A>C
ENST00000453321.8:c.769A>C MANE Select ENSP00000389998.3:p.Met257Leu
ENST00000323130.7:c.739A>C ENSP00000314488.3:p.Met247Leu
ENST00000409623.7:c.526A>C ENSP00000386966.3:p.Met176Leu
ENST00000425545.2:n.216A>C
ENST00000452276.5:c.460A>C ENSP00000388671.1:p.Met154Leu
ENST00000453321.7:c.769A>C ENSP00000389998.3:p.Met257Leu
ENST00000453906.5:c.407-5576A>C ENSP00000403035.1:n.407-5576A>C
ENST00000474944.5:n.427-5576A>C
ENST00000496213.5:n.234A>C
NM_001142301.1:c.526A>C , LRG_688t2:c.526A>C NP_001135773.1:p.Met176Leu
NM_153704.5:c.769A>C , LRG_688t1:c.769A>C NP_714915.3:p.Met257Leu
NR_024522.1:n.840A>C
XM_006716686.2:c.466A>C XP_006716749.1:p.Met156Leu
XM_006716687.2:c.169A>C XP_006716750.1:p.Met57Leu
XM_011517363.1:c.407-5576A>C XP_011515665.1:n.407-5576A>C
XR_428387.1:n.827A>C
XR_928360.1:n.827A>C
XR_928361.1:n.827A>C
XR_928362.1:n.827A>C
XM_006716686.4:c.466A>C XP_006716749.1:p.Met156Leu
XM_011517363.3:c.407-5576A>C XP_011515665.1:n.407-5576A>C
XM_024447326.1:c.115A>C XP_024303094.1:p.Met39Leu
XR_001745619.2:n.810A>C
XR_428387.2:n.810A>C
XR_928360.3:n.810A>C
XR_928362.3:n.810A>C
NM_153704.6:c.769A>C MANE Select NP_714915.3:p.Met257Leu
NR_024522.2:n.790A>C