Canonical Allele Identifier: CA371688105

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792971T>A (hg19) ; chr8:g.93780743T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780743T>A , CM000670.2:g.93780743T>A	GRCh38
NC_000008.10:g.94792971T>A , CM000670.1:g.94792971T>A	GRCh37
NC_000008.9:g.94862147T>A	NCBI36
NG_009190.1:g.30900T>A , LRG_688:g.30900T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.865T>A	ENSP00000314488.4:p.Phe289Ile
ENST00000409623.8:c.865T>A	ENSP00000386966.4:p.Phe289Ile
ENST00000452276.6:c.865T>A	ENSP00000388671.2:p.Phe289Ile
ENST00000453906.6:c.407-5480T>A	ENSP00000403035.2:n.407-5480T>A
ENST00000520680.2:c.865T>A	ENSP00000428785.2:p.Phe289Ile
ENST00000521065.2:c.*582T>A	ENSP00000427947.2:n.*582T>A
ENST00000521517.6:c.865T>A	ENSP00000430740.2:p.Phe289Ile
ENST00000681998.1:c.795T>A	ENSP00000506773.1:n.795T>A
ENST00000682036.1:c.407-5480T>A	ENSP00000508390.1:n.407-5480T>A
ENST00000682577.1:c.795T>A	ENSP00000506963.1:n.795T>A
ENST00000682624.1:c.*439T>A	ENSP00000508343.1:n.*439T>A
ENST00000682700.1:c.865T>A	ENSP00000507627.1:p.Phe289Ile
ENST00000682744.1:n.403T>A
ENST00000682804.1:n.688T>A
ENST00000682837.1:c.620T>A	ENSP00000507920.1:n.620T>A
ENST00000682935.1:n.2425T>A
ENST00000682984.1:c.526T>A	ENSP00000507209.1:p.Phe176Ile
ENST00000683078.1:c.620T>A	ENSP00000506796.1:n.620T>A
ENST00000683223.1:c.706T>A	ENSP00000507685.1:n.706T>A
ENST00000683238.1:n.2246T>A
ENST00000683249.1:n.2446T>A
ENST00000683336.1:c.795T>A	ENSP00000507695.1:n.795T>A
ENST00000683362.1:c.526T>A	ENSP00000506985.1:p.Phe176Ile
ENST00000683850.1:n.788T>A
ENST00000683919.1:c.795T>A	ENSP00000507617.1:n.795T>A
ENST00000683953.1:c.776T>A	ENSP00000508375.1:n.776T>A
ENST00000684023.1:c.999T>A	ENSP00000507461.1:n.999T>A
ENST00000684064.1:c.556T>A	ENSP00000508192.1:p.Phe186Ile
ENST00000684089.1:n.2415T>A
ENST00000684149.1:c.*201T>A	ENSP00000507943.1:n.*201T>A
ENST00000684416.1:n.824T>A
ENST00000684540.1:c.795T>A	ENSP00000507987.1:n.795T>A
ENST00000453321.8:c.865T>A MANE Select	ENSP00000389998.3:p.Phe289Ile
ENST00000323130.7:c.835T>A	ENSP00000314488.3:p.Phe279Ile
ENST00000409623.7:c.622T>A	ENSP00000386966.3:p.Phe208Ile
ENST00000425545.2:n.312T>A
ENST00000452276.5:c.556T>A	ENSP00000388671.1:p.Phe186Ile
ENST00000453321.7:c.865T>A	ENSP00000389998.3:p.Phe289Ile
ENST00000453906.5:c.407-5480T>A	ENSP00000403035.1:n.407-5480T>A
ENST00000474944.5:n.427-5480T>A
ENST00000496213.5:n.330T>A
NM_001142301.1:c.622T>A , LRG_688t2:c.622T>A	NP_001135773.1:p.Phe208Ile
NM_153704.5:c.865T>A , LRG_688t1:c.865T>A	NP_714915.3:p.Phe289Ile
NR_024522.1:n.936T>A
XM_006716686.2:c.562T>A	XP_006716749.1:p.Phe188Ile
XM_006716687.2:c.265T>A	XP_006716750.1:p.Phe89Ile
XM_011517363.1:c.407-5480T>A	XP_011515665.1:n.407-5480T>A
XR_428387.1:n.923T>A
XR_928360.1:n.923T>A
XR_928361.1:n.923T>A
XR_928362.1:n.923T>A
XM_006716686.4:c.562T>A	XP_006716749.1:p.Phe188Ile
XM_011517363.3:c.407-5480T>A	XP_011515665.1:n.407-5480T>A
XM_024447326.1:c.211T>A	XP_024303094.1:p.Phe71Ile
XR_001745619.2:n.906T>A
XR_428387.2:n.906T>A
XR_928360.3:n.906T>A
XR_928362.3:n.906T>A
NM_153704.6:c.865T>A MANE Select	NP_714915.3:p.Phe289Ile
NR_024522.2:n.886T>A