Canonical Allele Identifier: CA371685942

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2102346
• ClinVar RCV Id: RCV003037666
• MyVariant Identifiers: chr8:g.94770799T>C (hg19) ; chr8:g.93758571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758571T>C , CM000670.2:g.93758571T>C	GRCh38
NC_000008.10:g.94770799T>C , CM000670.1:g.94770799T>C	GRCh37
NC_000008.9:g.94839975T>C	NCBI36
NG_009190.1:g.8728T>C , LRG_688:g.8728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.401T>C	ENSP00000314488.4:p.Ile134Thr
ENST00000409623.8:c.401T>C	ENSP00000386966.4:p.Ile134Thr
ENST00000452276.6:c.401T>C	ENSP00000388671.2:p.Ile134Thr
ENST00000453906.6:c.401T>C	ENSP00000403035.2:p.Ile134Thr
ENST00000520680.2:c.401T>C	ENSP00000428785.2:p.Ile134Thr
ENST00000521065.2:c.401T>C	ENSP00000427947.2:p.Ile134Thr
ENST00000521517.6:c.401T>C	ENSP00000430740.2:p.Ile134Thr
ENST00000681998.1:c.401T>C	ENSP00000506773.1:p.Ile134Thr
ENST00000682036.1:c.401T>C	ENSP00000508390.1:p.Ile134Thr
ENST00000682577.1:c.401T>C	ENSP00000506963.1:p.Ile134Thr
ENST00000682624.1:c.*45T>C	ENSP00000508343.1:n.*45T>C
ENST00000682700.1:c.401T>C	ENSP00000507627.1:p.Ile134Thr
ENST00000682804.1:n.294T>C
ENST00000682837.1:c.401T>C	ENSP00000507920.1:p.Ile134Thr
ENST00000682935.1:n.401T>C
ENST00000682984.1:c.312+2705T>C	ENSP00000507209.1:n.312+2705T>C
ENST00000683078.1:c.401T>C	ENSP00000506796.1:p.Ile134Thr
ENST00000683223.1:c.312T>C	ENSP00000507685.1:n.312T>C
ENST00000683238.1:n.222T>C
ENST00000683249.1:n.422T>C
ENST00000683336.1:c.401T>C	ENSP00000507695.1:p.Ile134Thr
ENST00000683362.1:c.312+2705T>C	ENSP00000506985.1:n.312+2705T>C
ENST00000683850.1:n.324T>C
ENST00000683919.1:c.401T>C	ENSP00000507617.1:p.Ile134Thr
ENST00000683953.1:c.312T>C	ENSP00000508375.1:n.312T>C
ENST00000684023.1:c.401T>C	ENSP00000507461.1:p.Ile134Thr
ENST00000684064.1:c.92T>C	ENSP00000508192.1:p.Ile31Thr
ENST00000684089.1:n.391T>C
ENST00000684149.1:c.401T>C	ENSP00000507943.1:p.Ile134Thr
ENST00000684416.1:n.226T>C
ENST00000684540.1:c.401T>C	ENSP00000507987.1:p.Ile134Thr
ENST00000684733.1:n.336T>C
ENST00000453321.8:c.401T>C MANE Select	ENSP00000389998.3:p.Ile134Thr
ENST00000323130.7:c.371T>C	ENSP00000314488.3:p.Ile124Thr
ENST00000409623.7:c.24T>C	ENSP00000386966.3:p.Tyr8=
ENST00000452276.5:c.92T>C	ENSP00000388671.1:p.Ile31Thr
ENST00000453321.7:c.401T>C	ENSP00000389998.3:p.Ile134Thr
ENST00000453906.5:c.401T>C	ENSP00000403035.1:p.Ile134Thr
ENST00000455946.5:c.401T>C	ENSP00000416339.1:p.Ile134Thr
ENST00000474944.5:n.421T>C
ENST00000475305.1:n.410T>C
ENST00000498673.5:c.-80T>C	ENSP00000430232.1:n.-80T>C
ENST00000518319.5:c.-119T>C	ENSP00000430289.1:n.-119T>C
ENST00000521065.1:c.307T>C
ENST00000521222.5:c.*37T>C	ENSP00000429925.1:n.*37T>C
ENST00000521517.5:c.393T>C
NM_001142301.1:c.24T>C , LRG_688t2:c.24T>C	NP_001135773.1:p.Tyr8=
NM_153704.5:c.401T>C , LRG_688t1:c.401T>C	NP_714915.3:p.Ile134Thr
NR_024522.1:n.472T>C
XM_006716686.2:c.98T>C	XP_006716749.1:p.Ile33Thr
XM_011517363.1:c.401T>C	XP_011515665.1:p.Ile134Thr
XR_428387.1:n.459T>C
XR_928360.1:n.459T>C
XR_928361.1:n.459T>C
XR_928362.1:n.459T>C
XM_006716686.4:c.98T>C	XP_006716749.1:p.Ile33Thr
XM_011517363.3:c.401T>C	XP_011515665.1:p.Ile134Thr
XM_024447326.1:c.-9T>C	XP_024303094.1:n.-9T>C
XR_001745619.2:n.442T>C
XR_428387.2:n.442T>C
XR_928360.3:n.442T>C
XR_928362.3:n.442T>C
NM_153704.6:c.401T>C MANE Select	NP_714915.3:p.Ile134Thr
NR_024522.2:n.422T>C