Canonical Allele Identifier: CA461850899

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94770764T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758536T>C , CM000670.2:g.93758536T>C	GRCh38
NC_000008.10:g.94770764T>C , CM000670.1:g.94770764T>C	GRCh37
NC_000008.9:g.94839940T>C	NCBI36
NG_009190.1:g.8693T>C , LRG_688:g.8693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.366T>C	ENSP00000314488.4:p.Thr122=
ENST00000409623.8:c.366T>C	ENSP00000386966.4:p.Thr122=
ENST00000452276.6:c.366T>C	ENSP00000388671.2:p.Thr122=
ENST00000453906.6:c.366T>C	ENSP00000403035.2:p.Thr122=
ENST00000520680.2:c.366T>C	ENSP00000428785.2:p.Thr122=
ENST00000521065.2:c.366T>C	ENSP00000427947.2:p.Thr122=
ENST00000521517.6:c.366T>C	ENSP00000430740.2:p.Thr122=
ENST00000681998.1:c.366T>C	ENSP00000506773.1:p.Thr122=
ENST00000682036.1:c.366T>C	ENSP00000508390.1:p.Thr122=
ENST00000682577.1:c.366T>C	ENSP00000506963.1:p.Thr122=
ENST00000682624.1:c.*10T>C	ENSP00000508343.1:n.*10T>C
ENST00000682700.1:c.366T>C	ENSP00000507627.1:p.Thr122=
ENST00000682804.1:n.259T>C
ENST00000682837.1:c.366T>C	ENSP00000507920.1:p.Thr122=
ENST00000682935.1:n.366T>C
ENST00000682984.1:c.312+2670T>C	ENSP00000507209.1:n.312+2670T>C
ENST00000683078.1:c.366T>C	ENSP00000506796.1:p.Thr122=
ENST00000683223.1:c.277T>C	ENSP00000507685.1:n.277T>C
ENST00000683238.1:n.187T>C
ENST00000683249.1:n.387T>C
ENST00000683336.1:c.366T>C	ENSP00000507695.1:p.Thr122=
ENST00000683362.1:c.312+2670T>C	ENSP00000506985.1:n.312+2670T>C
ENST00000683850.1:n.289T>C
ENST00000683919.1:c.366T>C	ENSP00000507617.1:p.Thr122=
ENST00000683953.1:c.277T>C	ENSP00000508375.1:n.277T>C
ENST00000684023.1:c.366T>C	ENSP00000507461.1:p.Thr122=
ENST00000684064.1:c.57T>C	ENSP00000508192.1:p.Thr19=
ENST00000684089.1:n.356T>C
ENST00000684149.1:c.366T>C	ENSP00000507943.1:p.Thr122=
ENST00000684416.1:n.191T>C
ENST00000684540.1:c.366T>C	ENSP00000507987.1:p.Thr122=
ENST00000684733.1:n.301T>C
ENST00000453321.8:c.366T>C MANE Select	ENSP00000389998.3:p.Thr122=
ENST00000323130.7:c.336T>C	ENSP00000314488.3:p.Thr112=
ENST00000409623.7:c.-12T>C	ENSP00000386966.3:n.-12T>C
ENST00000452276.5:c.57T>C	ENSP00000388671.1:p.Thr19=
ENST00000453321.7:c.366T>C	ENSP00000389998.3:p.Thr122=
ENST00000453906.5:c.366T>C	ENSP00000403035.1:p.Thr122=
ENST00000455946.5:c.366T>C	ENSP00000416339.1:p.Thr122=
ENST00000474944.5:n.386T>C
ENST00000475305.1:n.375T>C
ENST00000498673.5:c.-115T>C	ENSP00000430232.1:n.-115T>C
ENST00000518319.5:c.-154T>C	ENSP00000430289.1:n.-154T>C
ENST00000521065.1:c.272T>C
ENST00000521222.5:c.*2T>C	ENSP00000429925.1:n.*2T>C
ENST00000521517.5:c.358T>C
NM_001142301.1:c.-12T>C , LRG_688t2:c.-12T>C	NP_001135773.1:n.-12T>C
NM_153704.5:c.366T>C , LRG_688t1:c.366T>C	NP_714915.3:p.Thr122=
NR_024522.1:n.437T>C
XM_006716686.2:c.63T>C	XP_006716749.1:p.Thr21=
XM_011517363.1:c.366T>C	XP_011515665.1:p.Thr122=
XR_428387.1:n.424T>C
XR_928360.1:n.424T>C
XR_928361.1:n.424T>C
XR_928362.1:n.424T>C
XM_006716686.4:c.63T>C	XP_006716749.1:p.Thr21=
XM_011517363.3:c.366T>C	XP_011515665.1:p.Thr122=
XM_024447326.1:c.-44T>C	XP_024303094.1:n.-44T>C
XR_001745619.2:n.407T>C
XR_428387.2:n.407T>C
XR_928360.3:n.407T>C
XR_928362.3:n.407T>C
NM_153704.6:c.366T>C MANE Select	NP_714915.3:p.Thr122=
NR_024522.2:n.387T>C