Canonical Allele Identifier: CA4808209
Community Standard Title: NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93799639G>A , CM000670.2:g.93799639G>A GRCh38
NC_000008.10:g.94811867G>A , CM000670.1:g.94811867G>A GRCh37
NC_000008.9:g.94881043G>A NCBI36
NG_009190.1:g.49796G>A , LRG_688:g.49796G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2122G>A MANE Select NP_714915.3:p.Ala708Thr
ENST00000453321.8:c.2122G>A MANE Select ENSP00000389998.3:p.Ala708Thr
NM_001142301.1:c.1879G>A , LRG_688t2:c.1879G>A NP_001135773.1:p.Ala627Thr
NM_153704.5:c.2122G>A , LRG_688t1:c.2122G>A NP_714915.3:p.Ala708Thr
NR_024522.1:n.2193G>A
NR_024522.2:n.2143G>A
ENST00000323130.7:c.2092G>A ENSP00000314488.3:p.Ala698Thr
ENST00000323130.8:c.2122G>A ENSP00000314488.4:p.Ala708Thr
ENST00000409623.7:c.1879G>A ENSP00000386966.3:p.Ala627Thr
ENST00000409623.8:c.2077G>A ENSP00000386966.4:p.Ala693Thr
ENST00000452276.6:c.2122G>A ENSP00000388671.2:p.Ala708Thr
ENST00000453321.7:c.2122G>A ENSP00000389998.3:p.Ala708Thr
ENST00000453906.6:c.1240G>A ENSP00000403035.2:p.Ala414Thr
ENST00000474944.5:n.1260G>A
ENST00000518896.2:c.413G>A ENSP00000507992.1:n.413G>A
ENST00000519845.5:n.854G>A
ENST00000520680.2:c.2245G>A ENSP00000428785.2:p.Ala749Thr
ENST00000521517.6:c.2023G>A ENSP00000430740.2:p.Ala675Thr
ENST00000681998.1:c.1943G>A ENSP00000506773.1:n.1943G>A
ENST00000682036.1:c.1363G>A ENSP00000508390.1:p.Ala455Thr
ENST00000682577.1:c.1895G>A ENSP00000506963.1:n.1895G>A
ENST00000682624.1:c.*1696G>A ENSP00000508343.1:n.*1696G>A
ENST00000682700.1:c.2122G>A ENSP00000507627.1:p.Ala708Thr
ENST00000682744.1:n.1660G>A
ENST00000682804.1:n.1945G>A
ENST00000682837.1:c.1611G>A ENSP00000507920.1:n.1611G>A
ENST00000682935.1:n.4172G>A
ENST00000682984.1:c.1783G>A ENSP00000507209.1:p.Ala595Thr
ENST00000683078.1:c.1877G>A ENSP00000506796.1:n.1877G>A
ENST00000683223.1:c.1854G>A ENSP00000507685.1:n.1854G>A
ENST00000683238.1:n.3346G>A
ENST00000683249.1:n.3719G>A
ENST00000683336.1:c.1943G>A ENSP00000507695.1:n.1943G>A
ENST00000683362.1:c.1783G>A ENSP00000506985.1:p.Ala595Thr
ENST00000683850.1:n.2045G>A
ENST00000683919.1:c.2052G>A ENSP00000507617.1:n.2052G>A
ENST00000683953.1:c.2033G>A ENSP00000508375.1:n.2033G>A
ENST00000684023.1:c.2099G>A ENSP00000507461.1:n.2099G>A
ENST00000684064.1:c.1813G>A ENSP00000508192.1:p.Ala605Thr
ENST00000684089.1:n.3672G>A
ENST00000684149.1:c.*1301G>A ENSP00000507943.1:n.*1301G>A
ENST00000684343.1:c.319G>A ENSP00000507591.1:p.Ala107Thr
ENST00000684416.1:n.2081G>A
ENST00000684540.1:c.2052G>A ENSP00000507987.1:n.2052G>A
XM_006716686.2:c.1819G>A XP_006716749.1:p.Ala607Thr
XM_006716686.4:c.1819G>A XP_006716749.1:p.Ala607Thr
XM_006716687.2:c.1522G>A XP_006716750.1:p.Ala508Thr
XM_011517363.1:c.1240G>A XP_011515665.1:p.Ala414Thr
XM_011517363.3:c.1240G>A XP_011515665.1:p.Ala414Thr
XM_024447326.1:c.1468G>A XP_024303094.1:p.Ala490Thr
XR_001745619.2:n.2163G>A
XR_428387.1:n.2180G>A
XR_428387.2:n.2163G>A
XR_928360.1:n.2180G>A
XR_928360.3:n.2163G>A
XR_928361.1:n.2180G>A
XR_928362.1:n.2180G>A
XR_928362.3:n.2163G>A