Canonical Allele Identifier: CA1803216919
Community Standard Title: NM_153704.6(TMEM67):c.1769T= (p.Phe590=)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93795503T= , CM000670.2:g.93795503T= GRCh38
NC_000008.10:g.94807731T= , CM000670.1:g.94807731T= GRCh37
NC_000008.9:g.94876907T= NCBI36
NG_009190.1:g.45660T= , LRG_688:g.45660T=

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.1769T= MANE Select NP_714915.3:p.Phe590=
ENST00000453321.8:c.1769T= MANE Select ENSP00000389998.3:p.Phe590=
NM_001142301.1:c.1526T= , LRG_688t2:c.1526T= NP_001135773.1:p.Phe509=
NM_153704.5:c.1769T= , LRG_688t1:c.1769T= NP_714915.3:p.Phe590=
NR_024522.1:n.1840T=
NR_024522.2:n.1790T=
ENST00000323130.7:c.1739T= ENSP00000314488.3:p.Phe580=
ENST00000323130.8:c.1769T= ENSP00000314488.4:p.Phe590=
ENST00000409623.7:c.1526T= ENSP00000386966.3:p.Phe509=
ENST00000409623.8:c.1724T= ENSP00000386966.4:p.Phe575=
ENST00000452276.6:c.1769T= ENSP00000388671.2:p.Phe590=
ENST00000453321.7:c.1769T= ENSP00000389998.3:p.Phe590=
ENST00000453906.6:c.887T= ENSP00000403035.2:p.Phe296=
ENST00000474944.5:n.907T=
ENST00000518896.2:c.35T= ENSP00000507992.1:p.Phe12=
ENST00000519845.5:n.501T=
ENST00000520680.1:c.714T=
ENST00000520680.2:c.1892T= ENSP00000428785.2:p.Phe631=
ENST00000521517.6:c.1675-398T= ENSP00000430740.2:n.1675-398T=
ENST00000523230.5:n.304T=
ENST00000681998.1:c.1590T= ENSP00000506773.1:n.1590T=
ENST00000682036.1:c.1010T= ENSP00000508390.1:p.Phe337=
ENST00000682577.1:c.1542T= ENSP00000506963.1:n.1542T=
ENST00000682624.1:c.*1343T= ENSP00000508343.1:n.*1343T=
ENST00000682700.1:c.1769T= ENSP00000507627.1:p.Phe590=
ENST00000682744.1:n.1307T=
ENST00000682804.1:n.1592T=
ENST00000682837.1:c.1258T= ENSP00000507920.1:n.1258T=
ENST00000682935.1:n.3819T=
ENST00000682984.1:c.1430T= ENSP00000507209.1:p.Phe477=
ENST00000683078.1:c.1524T= ENSP00000506796.1:n.1524T=
ENST00000683223.1:c.1501T= ENSP00000507685.1:n.1501T=
ENST00000683238.1:n.2993T=
ENST00000683249.1:n.3366T=
ENST00000683336.1:c.1590T= ENSP00000507695.1:n.1590T=
ENST00000683362.1:c.1430T= ENSP00000506985.1:p.Phe477=
ENST00000683850.1:n.1692T=
ENST00000683919.1:c.1699T= ENSP00000507617.1:n.1699T=
ENST00000683953.1:c.1680T= ENSP00000508375.1:n.1680T=
ENST00000684023.1:c.1746T= ENSP00000507461.1:n.1746T=
ENST00000684064.1:c.1460T= ENSP00000508192.1:p.Phe487=
ENST00000684089.1:n.3319T=
ENST00000684149.1:c.*948T= ENSP00000507943.1:n.*948T=
ENST00000684343.1:c.-35T= ENSP00000507591.1:n.-35T=
ENST00000684416.1:n.1728T=
ENST00000684540.1:c.1699T= ENSP00000507987.1:n.1699T=
XM_006716686.2:c.1466T= XP_006716749.1:p.Phe489=
XM_006716686.4:c.1466T= XP_006716749.1:p.Phe489=
XM_006716687.2:c.1169T= XP_006716750.1:p.Phe390=
XM_011517363.1:c.887T= XP_011515665.1:p.Phe296=
XM_011517363.3:c.887T= XP_011515665.1:p.Phe296=
XM_024447326.1:c.1115T= XP_024303094.1:p.Phe372=
XR_001745619.2:n.1810T=
XR_428387.1:n.1827T=
XR_428387.2:n.1810T=
XR_928360.1:n.1827T=
XR_928360.3:n.1810T=
XR_928361.1:n.1827T=
XR_928362.1:n.1827T=
XR_928362.3:n.1810T=