Canonical Allele Identifier: CA371687790

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792867T>C (hg19) ; chr8:g.93780639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780639T>C , CM000670.2:g.93780639T>C	GRCh38
NC_000008.10:g.94792867T>C , CM000670.1:g.94792867T>C	GRCh37
NC_000008.9:g.94862043T>C	NCBI36
NG_009190.1:g.30796T>C , LRG_688:g.30796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.761T>C	ENSP00000314488.4:p.Val254Ala
ENST00000409623.8:c.761T>C	ENSP00000386966.4:p.Val254Ala
ENST00000452276.6:c.761T>C	ENSP00000388671.2:p.Val254Ala
ENST00000453906.6:c.407-5584T>C	ENSP00000403035.2:n.407-5584T>C
ENST00000520680.2:c.761T>C	ENSP00000428785.2:p.Val254Ala
ENST00000521065.2:c.*478T>C	ENSP00000427947.2:n.*478T>C
ENST00000521517.6:c.761T>C	ENSP00000430740.2:p.Val254Ala
ENST00000681998.1:c.691T>C	ENSP00000506773.1:n.691T>C
ENST00000682036.1:c.407-5584T>C	ENSP00000508390.1:n.407-5584T>C
ENST00000682577.1:c.691T>C	ENSP00000506963.1:n.691T>C
ENST00000682624.1:c.*335T>C	ENSP00000508343.1:n.*335T>C
ENST00000682700.1:c.761T>C	ENSP00000507627.1:p.Val254Ala
ENST00000682744.1:n.299T>C
ENST00000682804.1:n.584T>C
ENST00000682837.1:c.516T>C	ENSP00000507920.1:p.Cys172=
ENST00000682935.1:n.2321T>C
ENST00000682984.1:c.422T>C	ENSP00000507209.1:p.Val141Ala
ENST00000683078.1:c.516T>C	ENSP00000506796.1:p.Cys172=
ENST00000683223.1:c.602T>C	ENSP00000507685.1:n.602T>C
ENST00000683238.1:n.2142T>C
ENST00000683249.1:n.2342T>C
ENST00000683336.1:c.691T>C	ENSP00000507695.1:n.691T>C
ENST00000683362.1:c.422T>C	ENSP00000506985.1:p.Val141Ala
ENST00000683850.1:n.684T>C
ENST00000683919.1:c.691T>C	ENSP00000507617.1:n.691T>C
ENST00000683953.1:c.672T>C	ENSP00000508375.1:n.672T>C
ENST00000684023.1:c.895T>C	ENSP00000507461.1:n.895T>C
ENST00000684064.1:c.452T>C	ENSP00000508192.1:p.Val151Ala
ENST00000684089.1:n.2311T>C
ENST00000684149.1:c.*97T>C	ENSP00000507943.1:n.*97T>C
ENST00000684416.1:n.720T>C
ENST00000684540.1:c.691T>C	ENSP00000507987.1:n.691T>C
ENST00000453321.8:c.761T>C MANE Select	ENSP00000389998.3:p.Val254Ala
ENST00000323130.7:c.731T>C	ENSP00000314488.3:p.Val244Ala
ENST00000409623.7:c.518T>C	ENSP00000386966.3:p.Val173Ala
ENST00000425545.2:n.208T>C
ENST00000452276.5:c.452T>C	ENSP00000388671.1:p.Val151Ala
ENST00000453321.7:c.761T>C	ENSP00000389998.3:p.Val254Ala
ENST00000453906.5:c.407-5584T>C	ENSP00000403035.1:n.407-5584T>C
ENST00000474944.5:n.427-5584T>C
ENST00000496213.5:n.226T>C
NM_001142301.1:c.518T>C , LRG_688t2:c.518T>C	NP_001135773.1:p.Val173Ala
NM_153704.5:c.761T>C , LRG_688t1:c.761T>C	NP_714915.3:p.Val254Ala
NR_024522.1:n.832T>C
XM_006716686.2:c.458T>C	XP_006716749.1:p.Val153Ala
XM_006716687.2:c.161T>C	XP_006716750.1:p.Val54Ala
XM_011517363.1:c.407-5584T>C	XP_011515665.1:n.407-5584T>C
XR_428387.1:n.819T>C
XR_928360.1:n.819T>C
XR_928361.1:n.819T>C
XR_928362.1:n.819T>C
XM_006716686.4:c.458T>C	XP_006716749.1:p.Val153Ala
XM_011517363.3:c.407-5584T>C	XP_011515665.1:n.407-5584T>C
XM_024447326.1:c.107T>C	XP_024303094.1:p.Val36Ala
XR_001745619.2:n.802T>C
XR_428387.2:n.802T>C
XR_928360.3:n.802T>C
XR_928362.3:n.802T>C
NM_153704.6:c.761T>C MANE Select	NP_714915.3:p.Val254Ala
NR_024522.2:n.782T>C