Canonical Allele Identifier: CA371687788

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792866G>T (hg19) ; chr8:g.93780638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780638G>T , CM000670.2:g.93780638G>T	GRCh38
NC_000008.10:g.94792866G>T , CM000670.1:g.94792866G>T	GRCh37
NC_000008.9:g.94862042G>T	NCBI36
NG_009190.1:g.30795G>T , LRG_688:g.30795G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.760G>T	ENSP00000314488.4:p.Val254Leu
ENST00000409623.8:c.760G>T	ENSP00000386966.4:p.Val254Leu
ENST00000452276.6:c.760G>T	ENSP00000388671.2:p.Val254Leu
ENST00000453906.6:c.407-5585G>T	ENSP00000403035.2:n.407-5585G>T
ENST00000520680.2:c.760G>T	ENSP00000428785.2:p.Val254Leu
ENST00000521065.2:c.*477G>T	ENSP00000427947.2:n.*477G>T
ENST00000521517.6:c.760G>T	ENSP00000430740.2:p.Val254Leu
ENST00000681998.1:c.690G>T	ENSP00000506773.1:n.690G>T
ENST00000682036.1:c.407-5585G>T	ENSP00000508390.1:n.407-5585G>T
ENST00000682577.1:c.690G>T	ENSP00000506963.1:n.690G>T
ENST00000682624.1:c.*334G>T	ENSP00000508343.1:n.*334G>T
ENST00000682700.1:c.760G>T	ENSP00000507627.1:p.Val254Leu
ENST00000682744.1:n.298G>T
ENST00000682804.1:n.583G>T
ENST00000682837.1:c.515G>T	ENSP00000507920.1:p.Cys172Phe
ENST00000682935.1:n.2320G>T
ENST00000682984.1:c.421G>T	ENSP00000507209.1:p.Val141Leu
ENST00000683078.1:c.515G>T	ENSP00000506796.1:p.Cys172Phe
ENST00000683223.1:c.601G>T	ENSP00000507685.1:n.601G>T
ENST00000683238.1:n.2141G>T
ENST00000683249.1:n.2341G>T
ENST00000683336.1:c.690G>T	ENSP00000507695.1:n.690G>T
ENST00000683362.1:c.421G>T	ENSP00000506985.1:p.Val141Leu
ENST00000683850.1:n.683G>T
ENST00000683919.1:c.690G>T	ENSP00000507617.1:n.690G>T
ENST00000683953.1:c.671G>T	ENSP00000508375.1:n.671G>T
ENST00000684023.1:c.894G>T	ENSP00000507461.1:n.894G>T
ENST00000684064.1:c.451G>T	ENSP00000508192.1:p.Val151Leu
ENST00000684089.1:n.2310G>T
ENST00000684149.1:c.*96G>T	ENSP00000507943.1:n.*96G>T
ENST00000684416.1:n.719G>T
ENST00000684540.1:c.690G>T	ENSP00000507987.1:n.690G>T
ENST00000453321.8:c.760G>T MANE Select	ENSP00000389998.3:p.Val254Leu
ENST00000323130.7:c.730G>T	ENSP00000314488.3:p.Val244Leu
ENST00000409623.7:c.517G>T	ENSP00000386966.3:p.Val173Leu
ENST00000425545.2:n.207G>T
ENST00000452276.5:c.451G>T	ENSP00000388671.1:p.Val151Leu
ENST00000453321.7:c.760G>T	ENSP00000389998.3:p.Val254Leu
ENST00000453906.5:c.407-5585G>T	ENSP00000403035.1:n.407-5585G>T
ENST00000474944.5:n.427-5585G>T
ENST00000496213.5:n.225G>T
NM_001142301.1:c.517G>T , LRG_688t2:c.517G>T	NP_001135773.1:p.Val173Leu
NM_153704.5:c.760G>T , LRG_688t1:c.760G>T	NP_714915.3:p.Val254Leu
NR_024522.1:n.831G>T
XM_006716686.2:c.457G>T	XP_006716749.1:p.Val153Leu
XM_006716687.2:c.160G>T	XP_006716750.1:p.Val54Leu
XM_011517363.1:c.407-5585G>T	XP_011515665.1:n.407-5585G>T
XR_428387.1:n.818G>T
XR_928360.1:n.818G>T
XR_928361.1:n.818G>T
XR_928362.1:n.818G>T
XM_006716686.4:c.457G>T	XP_006716749.1:p.Val153Leu
XM_011517363.3:c.407-5585G>T	XP_011515665.1:n.407-5585G>T
XM_024447326.1:c.106G>T	XP_024303094.1:p.Val36Leu
XR_001745619.2:n.801G>T
XR_428387.2:n.801G>T
XR_928360.3:n.801G>T
XR_928362.3:n.801G>T
NM_153704.6:c.760G>T MANE Select	NP_714915.3:p.Val254Leu
NR_024522.2:n.781G>T