Canonical Allele Identifier: CA371698905

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821086A>T (hg19) ; chr8:g.93808858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808858A>T , CM000670.2:g.93808858A>T	GRCh38
NC_000008.10:g.94821086A>T , CM000670.1:g.94821086A>T	GRCh37
NC_000008.9:g.94890262A>T	NCBI36
NG_009190.1:g.59015A>T , LRG_688:g.59015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2458A>T	ENSP00000314488.4:p.Arg820Ter
ENST00000409623.8:c.2413A>T	ENSP00000386966.4:p.Arg805Ter
ENST00000452276.6:c.2341A>T	ENSP00000388671.2:p.Arg781Ter
ENST00000453906.6:c.1576A>T	ENSP00000403035.2:p.Arg526Ter
ENST00000518896.2:c.749A>T	ENSP00000507992.1:n.749A>T
ENST00000520680.2:c.2581A>T	ENSP00000428785.2:p.Arg861Ter
ENST00000521517.6:c.2359A>T	ENSP00000430740.2:p.Arg787Ter
ENST00000681998.1:c.2279A>T	ENSP00000506773.1:n.2279A>T
ENST00000682036.1:c.1699A>T	ENSP00000508390.1:p.Arg567Ter
ENST00000682577.1:c.2231A>T	ENSP00000506963.1:n.2231A>T
ENST00000682624.1:c.*2032A>T	ENSP00000508343.1:n.*2032A>T
ENST00000682700.1:c.2458A>T	ENSP00000507627.1:p.Arg820Ter
ENST00000682744.1:n.1996A>T
ENST00000682804.1:n.2281A>T
ENST00000682837.1:c.1947A>T	ENSP00000507920.1:n.1947A>T
ENST00000682935.1:n.4508A>T
ENST00000682984.1:c.2119A>T	ENSP00000507209.1:p.Arg707Ter
ENST00000683078.1:c.2213A>T	ENSP00000506796.1:n.2213A>T
ENST00000683223.1:c.2190A>T	ENSP00000507685.1:n.2190A>T
ENST00000683238.1:n.3682A>T
ENST00000683249.1:n.4055A>T
ENST00000683336.1:c.2279A>T	ENSP00000507695.1:n.2279A>T
ENST00000683362.1:c.2119A>T	ENSP00000506985.1:p.Arg707Ter
ENST00000683850.1:n.2381A>T
ENST00000683919.1:c.2388A>T	ENSP00000507617.1:n.2388A>T
ENST00000683953.1:c.2369A>T	ENSP00000508375.1:n.2369A>T
ENST00000684023.1:c.2435A>T	ENSP00000507461.1:n.2435A>T
ENST00000684064.1:c.2149A>T	ENSP00000508192.1:p.Arg717Ter
ENST00000684089.1:n.4008A>T
ENST00000684149.1:c.*1637A>T	ENSP00000507943.1:n.*1637A>T
ENST00000684343.1:c.655A>T	ENSP00000507591.1:p.Arg219Ter
ENST00000684416.1:n.2417A>T
ENST00000684540.1:c.2388A>T	ENSP00000507987.1:n.2388A>T
ENST00000453321.8:c.2458A>T MANE Select	ENSP00000389998.3:p.Arg820Ter
ENST00000323130.7:c.2428A>T	ENSP00000314488.3:p.Arg810Ter
ENST00000409623.7:c.2215A>T	ENSP00000386966.3:p.Arg739Ter
ENST00000453321.7:c.2458A>T	ENSP00000389998.3:p.Arg820Ter
ENST00000474944.5:n.1596A>T
ENST00000519845.5:n.1190A>T
NM_001142301.1:c.2215A>T , LRG_688t2:c.2215A>T	NP_001135773.1:p.Arg739Ter
NM_153704.5:c.2458A>T , LRG_688t1:c.2458A>T	NP_714915.3:p.Arg820Ter
NR_024522.1:n.2529A>T
XM_006716686.2:c.2155A>T	XP_006716749.1:p.Arg719Ter
XM_006716687.2:c.1858A>T	XP_006716750.1:p.Arg620Ter
XM_011517363.1:c.1576A>T	XP_011515665.1:p.Arg526Ter
XR_428387.1:n.2516A>T
XR_928360.1:n.2516A>T
XR_928361.1:n.2516A>T
XR_928362.1:n.2516A>T
XM_006716686.4:c.2155A>T	XP_006716749.1:p.Arg719Ter
XM_011517363.3:c.1576A>T	XP_011515665.1:p.Arg526Ter
XM_024447326.1:c.1804A>T	XP_024303094.1:p.Arg602Ter
XR_001745619.2:n.2499A>T
XR_428387.2:n.2499A>T
XR_928360.3:n.2499A>T
XR_928362.3:n.2499A>T
NM_153704.6:c.2458A>T MANE Select	NP_714915.3:p.Arg820Ter
NR_024522.2:n.2479A>T