Canonical Allele Identifier: CA371685897

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2636941
• ClinVar RCV Id: RCV004536682
• MyVariant Identifiers: chr8:g.94770783T>C (hg19) ; chr8:g.93758555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758555T>C , CM000670.2:g.93758555T>C	GRCh38
NC_000008.10:g.94770783T>C , CM000670.1:g.94770783T>C	GRCh37
NC_000008.9:g.94839959T>C	NCBI36
NG_009190.1:g.8712T>C , LRG_688:g.8712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.385T>C	ENSP00000314488.4:p.Cys129Arg
ENST00000409623.8:c.385T>C	ENSP00000386966.4:p.Cys129Arg
ENST00000452276.6:c.385T>C	ENSP00000388671.2:p.Cys129Arg
ENST00000453906.6:c.385T>C	ENSP00000403035.2:p.Cys129Arg
ENST00000520680.2:c.385T>C	ENSP00000428785.2:p.Cys129Arg
ENST00000521065.2:c.385T>C	ENSP00000427947.2:p.Cys129Arg
ENST00000521517.6:c.385T>C	ENSP00000430740.2:p.Cys129Arg
ENST00000681998.1:c.385T>C	ENSP00000506773.1:p.Cys129Arg
ENST00000682036.1:c.385T>C	ENSP00000508390.1:p.Cys129Arg
ENST00000682577.1:c.385T>C	ENSP00000506963.1:p.Cys129Arg
ENST00000682624.1:c.*29T>C	ENSP00000508343.1:n.*29T>C
ENST00000682700.1:c.385T>C	ENSP00000507627.1:p.Cys129Arg
ENST00000682804.1:n.278T>C
ENST00000682837.1:c.385T>C	ENSP00000507920.1:p.Cys129Arg
ENST00000682935.1:n.385T>C
ENST00000682984.1:c.312+2689T>C	ENSP00000507209.1:n.312+2689T>C
ENST00000683078.1:c.385T>C	ENSP00000506796.1:p.Cys129Arg
ENST00000683223.1:c.296T>C	ENSP00000507685.1:n.296T>C
ENST00000683238.1:n.206T>C
ENST00000683249.1:n.406T>C
ENST00000683336.1:c.385T>C	ENSP00000507695.1:p.Cys129Arg
ENST00000683362.1:c.312+2689T>C	ENSP00000506985.1:n.312+2689T>C
ENST00000683850.1:n.308T>C
ENST00000683919.1:c.385T>C	ENSP00000507617.1:p.Cys129Arg
ENST00000683953.1:c.296T>C	ENSP00000508375.1:n.296T>C
ENST00000684023.1:c.385T>C	ENSP00000507461.1:p.Cys129Arg
ENST00000684064.1:c.76T>C	ENSP00000508192.1:p.Cys26Arg
ENST00000684089.1:n.375T>C
ENST00000684149.1:c.385T>C	ENSP00000507943.1:p.Cys129Arg
ENST00000684416.1:n.210T>C
ENST00000684540.1:c.385T>C	ENSP00000507987.1:p.Cys129Arg
ENST00000684733.1:n.320T>C
ENST00000453321.8:c.385T>C MANE Select	ENSP00000389998.3:p.Cys129Arg
ENST00000323130.7:c.355T>C	ENSP00000314488.3:p.Cys119Arg
ENST00000409623.7:c.8T>C	ENSP00000386966.3:p.Leu3Pro
ENST00000452276.5:c.76T>C	ENSP00000388671.1:p.Cys26Arg
ENST00000453321.7:c.385T>C	ENSP00000389998.3:p.Cys129Arg
ENST00000453906.5:c.385T>C	ENSP00000403035.1:p.Cys129Arg
ENST00000455946.5:c.385T>C	ENSP00000416339.1:p.Cys129Arg
ENST00000474944.5:n.405T>C
ENST00000475305.1:n.394T>C
ENST00000498673.5:c.-96T>C	ENSP00000430232.1:n.-96T>C
ENST00000518319.5:c.-135T>C	ENSP00000430289.1:n.-135T>C
ENST00000521065.1:c.291T>C
ENST00000521222.5:c.*21T>C	ENSP00000429925.1:n.*21T>C
ENST00000521517.5:c.377T>C
NM_001142301.1:c.8T>C , LRG_688t2:c.8T>C	NP_001135773.1:p.Leu3Pro
NM_153704.5:c.385T>C , LRG_688t1:c.385T>C	NP_714915.3:p.Cys129Arg
NR_024522.1:n.456T>C
XM_006716686.2:c.82T>C	XP_006716749.1:p.Cys28Arg
XM_011517363.1:c.385T>C	XP_011515665.1:p.Cys129Arg
XR_428387.1:n.443T>C
XR_928360.1:n.443T>C
XR_928361.1:n.443T>C
XR_928362.1:n.443T>C
XM_006716686.4:c.82T>C	XP_006716749.1:p.Cys28Arg
XM_011517363.3:c.385T>C	XP_011515665.1:p.Cys129Arg
XM_024447326.1:c.-25T>C	XP_024303094.1:n.-25T>C
XR_001745619.2:n.426T>C
XR_428387.2:n.426T>C
XR_928360.3:n.426T>C
XR_928362.3:n.426T>C
NM_153704.6:c.385T>C MANE Select	NP_714915.3:p.Cys129Arg
NR_024522.2:n.406T>C