Canonical Allele Identifier: CA371687738

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792844T>A (hg19) ; chr8:g.93780616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780616T>A , CM000670.2:g.93780616T>A	GRCh38
NC_000008.10:g.94792844T>A , CM000670.1:g.94792844T>A	GRCh37
NC_000008.9:g.94862020T>A	NCBI36
NG_009190.1:g.30773T>A , LRG_688:g.30773T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.738T>A	ENSP00000314488.4:p.Cys246Ter
ENST00000409623.8:c.738T>A	ENSP00000386966.4:p.Cys246Ter
ENST00000452276.6:c.738T>A	ENSP00000388671.2:p.Cys246Ter
ENST00000453906.6:c.407-5607T>A	ENSP00000403035.2:n.407-5607T>A
ENST00000520680.2:c.738T>A	ENSP00000428785.2:p.Cys246Ter
ENST00000521065.2:c.*455T>A	ENSP00000427947.2:n.*455T>A
ENST00000521517.6:c.738T>A	ENSP00000430740.2:p.Cys246Ter
ENST00000681998.1:c.668T>A	ENSP00000506773.1:n.668T>A
ENST00000682036.1:c.407-5607T>A	ENSP00000508390.1:n.407-5607T>A
ENST00000682577.1:c.668T>A	ENSP00000506963.1:n.668T>A
ENST00000682624.1:c.*312T>A	ENSP00000508343.1:n.*312T>A
ENST00000682700.1:c.738T>A	ENSP00000507627.1:p.Cys246Ter
ENST00000682744.1:n.276T>A
ENST00000682804.1:n.561T>A
ENST00000682837.1:c.493T>A	ENSP00000507920.1:p.Ser165Thr
ENST00000682935.1:n.2298T>A
ENST00000682984.1:c.399T>A	ENSP00000507209.1:p.Cys133Ter
ENST00000683078.1:c.493T>A	ENSP00000506796.1:p.Ser165Thr
ENST00000683223.1:c.579T>A	ENSP00000507685.1:n.579T>A
ENST00000683238.1:n.2119T>A
ENST00000683249.1:n.2319T>A
ENST00000683336.1:c.668T>A	ENSP00000507695.1:n.668T>A
ENST00000683362.1:c.399T>A	ENSP00000506985.1:p.Cys133Ter
ENST00000683850.1:n.661T>A
ENST00000683919.1:c.668T>A	ENSP00000507617.1:n.668T>A
ENST00000683953.1:c.649T>A	ENSP00000508375.1:n.649T>A
ENST00000684023.1:c.872T>A	ENSP00000507461.1:n.872T>A
ENST00000684064.1:c.429T>A	ENSP00000508192.1:p.Cys143Ter
ENST00000684089.1:n.2288T>A
ENST00000684149.1:c.*74T>A	ENSP00000507943.1:n.*74T>A
ENST00000684416.1:n.697T>A
ENST00000684540.1:c.668T>A	ENSP00000507987.1:n.668T>A
ENST00000453321.8:c.738T>A MANE Select	ENSP00000389998.3:p.Cys246Ter
ENST00000323130.7:c.708T>A	ENSP00000314488.3:p.Cys236Ter
ENST00000409623.7:c.495T>A	ENSP00000386966.3:p.Cys165Ter
ENST00000425545.2:n.185T>A
ENST00000452276.5:c.429T>A	ENSP00000388671.1:p.Cys143Ter
ENST00000453321.7:c.738T>A	ENSP00000389998.3:p.Cys246Ter
ENST00000453906.5:c.407-5607T>A	ENSP00000403035.1:n.407-5607T>A
ENST00000474944.5:n.427-5607T>A
ENST00000496213.5:n.203T>A
NM_001142301.1:c.495T>A , LRG_688t2:c.495T>A	NP_001135773.1:p.Cys165Ter
NM_153704.5:c.738T>A , LRG_688t1:c.738T>A	NP_714915.3:p.Cys246Ter
NR_024522.1:n.809T>A
XM_006716686.2:c.435T>A	XP_006716749.1:p.Cys145Ter
XM_006716687.2:c.138T>A	XP_006716750.1:p.Cys46Ter
XM_011517363.1:c.407-5607T>A	XP_011515665.1:n.407-5607T>A
XR_428387.1:n.796T>A
XR_928360.1:n.796T>A
XR_928361.1:n.796T>A
XR_928362.1:n.796T>A
XM_006716686.4:c.435T>A	XP_006716749.1:p.Cys145Ter
XM_011517363.3:c.407-5607T>A	XP_011515665.1:n.407-5607T>A
XM_024447326.1:c.84T>A	XP_024303094.1:p.Cys28Ter
XR_001745619.2:n.779T>A
XR_428387.2:n.779T>A
XR_928360.3:n.779T>A
XR_928362.3:n.779T>A
NM_153704.6:c.738T>A MANE Select	NP_714915.3:p.Cys246Ter
NR_024522.2:n.759T>A