Canonical Allele Identifier: CA371685901

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94770784G>T (hg19) ; chr8:g.93758556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758556G>T , CM000670.2:g.93758556G>T	GRCh38
NC_000008.10:g.94770784G>T , CM000670.1:g.94770784G>T	GRCh37
NC_000008.9:g.94839960G>T	NCBI36
NG_009190.1:g.8713G>T , LRG_688:g.8713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.386G>T	ENSP00000314488.4:p.Cys129Phe
ENST00000409623.8:c.386G>T	ENSP00000386966.4:p.Cys129Phe
ENST00000452276.6:c.386G>T	ENSP00000388671.2:p.Cys129Phe
ENST00000453906.6:c.386G>T	ENSP00000403035.2:p.Cys129Phe
ENST00000520680.2:c.386G>T	ENSP00000428785.2:p.Cys129Phe
ENST00000521065.2:c.386G>T	ENSP00000427947.2:p.Cys129Phe
ENST00000521517.6:c.386G>T	ENSP00000430740.2:p.Cys129Phe
ENST00000681998.1:c.386G>T	ENSP00000506773.1:p.Cys129Phe
ENST00000682036.1:c.386G>T	ENSP00000508390.1:p.Cys129Phe
ENST00000682577.1:c.386G>T	ENSP00000506963.1:p.Cys129Phe
ENST00000682624.1:c.*30G>T	ENSP00000508343.1:n.*30G>T
ENST00000682700.1:c.386G>T	ENSP00000507627.1:p.Cys129Phe
ENST00000682804.1:n.279G>T
ENST00000682837.1:c.386G>T	ENSP00000507920.1:p.Cys129Phe
ENST00000682935.1:n.386G>T
ENST00000682984.1:c.312+2690G>T	ENSP00000507209.1:n.312+2690G>T
ENST00000683078.1:c.386G>T	ENSP00000506796.1:p.Cys129Phe
ENST00000683223.1:c.297G>T	ENSP00000507685.1:n.297G>T
ENST00000683238.1:n.207G>T
ENST00000683249.1:n.407G>T
ENST00000683336.1:c.386G>T	ENSP00000507695.1:p.Cys129Phe
ENST00000683362.1:c.312+2690G>T	ENSP00000506985.1:n.312+2690G>T
ENST00000683850.1:n.309G>T
ENST00000683919.1:c.386G>T	ENSP00000507617.1:p.Cys129Phe
ENST00000683953.1:c.297G>T	ENSP00000508375.1:n.297G>T
ENST00000684023.1:c.386G>T	ENSP00000507461.1:p.Cys129Phe
ENST00000684064.1:c.77G>T	ENSP00000508192.1:p.Cys26Phe
ENST00000684089.1:n.376G>T
ENST00000684149.1:c.386G>T	ENSP00000507943.1:p.Cys129Phe
ENST00000684416.1:n.211G>T
ENST00000684540.1:c.386G>T	ENSP00000507987.1:p.Cys129Phe
ENST00000684733.1:n.321G>T
ENST00000453321.8:c.386G>T MANE Select	ENSP00000389998.3:p.Cys129Phe
ENST00000323130.7:c.356G>T	ENSP00000314488.3:p.Cys119Phe
ENST00000409623.7:c.9G>T	ENSP00000386966.3:p.Leu3=
ENST00000452276.5:c.77G>T	ENSP00000388671.1:p.Cys26Phe
ENST00000453321.7:c.386G>T	ENSP00000389998.3:p.Cys129Phe
ENST00000453906.5:c.386G>T	ENSP00000403035.1:p.Cys129Phe
ENST00000455946.5:c.386G>T	ENSP00000416339.1:p.Cys129Phe
ENST00000474944.5:n.406G>T
ENST00000475305.1:n.395G>T
ENST00000498673.5:c.-95G>T	ENSP00000430232.1:n.-95G>T
ENST00000518319.5:c.-134G>T	ENSP00000430289.1:n.-134G>T
ENST00000521065.1:c.292G>T
ENST00000521222.5:c.*22G>T	ENSP00000429925.1:n.*22G>T
ENST00000521517.5:c.378G>T
NM_001142301.1:c.9G>T , LRG_688t2:c.9G>T	NP_001135773.1:p.Leu3=
NM_153704.5:c.386G>T , LRG_688t1:c.386G>T	NP_714915.3:p.Cys129Phe
NR_024522.1:n.457G>T
XM_006716686.2:c.83G>T	XP_006716749.1:p.Cys28Phe
XM_011517363.1:c.386G>T	XP_011515665.1:p.Cys129Phe
XR_428387.1:n.444G>T
XR_928360.1:n.444G>T
XR_928361.1:n.444G>T
XR_928362.1:n.444G>T
XM_006716686.4:c.83G>T	XP_006716749.1:p.Cys28Phe
XM_011517363.3:c.386G>T	XP_011515665.1:p.Cys129Phe
XM_024447326.1:c.-24G>T	XP_024303094.1:n.-24G>T
XR_001745619.2:n.427G>T
XR_428387.2:n.427G>T
XR_928360.3:n.427G>T
XR_928362.3:n.427G>T
NM_153704.6:c.386G>T MANE Select	NP_714915.3:p.Cys129Phe
NR_024522.2:n.407G>T