Canonical Allele Identifier: CA181326348

Gene: TMEM67

Linked Data

• dbSNP Id: rs113813122
• MyVariant Identifiers: chr8:g.94792842T>C (hg19) ; chr8:g.93780614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780614T>C , CM000670.2:g.93780614T>C	GRCh38
NC_000008.10:g.94792842T>C , CM000670.1:g.94792842T>C	GRCh37
NC_000008.9:g.94862018T>C	NCBI36
NG_009190.1:g.30771T>C , LRG_688:g.30771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.736T>C	ENSP00000314488.4:p.Cys246Arg
ENST00000409623.8:c.736T>C	ENSP00000386966.4:p.Cys246Arg
ENST00000452276.6:c.736T>C	ENSP00000388671.2:p.Cys246Arg
ENST00000453906.6:c.407-5609T>C	ENSP00000403035.2:n.407-5609T>C
ENST00000520680.2:c.736T>C	ENSP00000428785.2:p.Cys246Arg
ENST00000521065.2:c.*453T>C	ENSP00000427947.2:n.*453T>C
ENST00000521517.6:c.736T>C	ENSP00000430740.2:p.Cys246Arg
ENST00000681998.1:c.666T>C	ENSP00000506773.1:n.666T>C
ENST00000682036.1:c.407-5609T>C	ENSP00000508390.1:n.407-5609T>C
ENST00000682577.1:c.666T>C	ENSP00000506963.1:n.666T>C
ENST00000682624.1:c.*310T>C	ENSP00000508343.1:n.*310T>C
ENST00000682700.1:c.736T>C	ENSP00000507627.1:p.Cys246Arg
ENST00000682744.1:n.274T>C
ENST00000682804.1:n.559T>C
ENST00000682837.1:c.491T>C	ENSP00000507920.1:p.Leu164Ser
ENST00000682935.1:n.2296T>C
ENST00000682984.1:c.397T>C	ENSP00000507209.1:p.Cys133Arg
ENST00000683078.1:c.491T>C	ENSP00000506796.1:p.Leu164Ser
ENST00000683223.1:c.577T>C	ENSP00000507685.1:n.577T>C
ENST00000683238.1:n.2117T>C
ENST00000683249.1:n.2317T>C
ENST00000683336.1:c.666T>C	ENSP00000507695.1:n.666T>C
ENST00000683362.1:c.397T>C	ENSP00000506985.1:p.Cys133Arg
ENST00000683850.1:n.659T>C
ENST00000683919.1:c.666T>C	ENSP00000507617.1:n.666T>C
ENST00000683953.1:c.647T>C	ENSP00000508375.1:n.647T>C
ENST00000684023.1:c.870T>C	ENSP00000507461.1:n.870T>C
ENST00000684064.1:c.427T>C	ENSP00000508192.1:p.Cys143Arg
ENST00000684089.1:n.2286T>C
ENST00000684149.1:c.*72T>C	ENSP00000507943.1:n.*72T>C
ENST00000684416.1:n.695T>C
ENST00000684540.1:c.666T>C	ENSP00000507987.1:n.666T>C
ENST00000453321.8:c.736T>C MANE Select	ENSP00000389998.3:p.Cys246Arg
ENST00000323130.7:c.706T>C	ENSP00000314488.3:p.Cys236Arg
ENST00000409623.7:c.493T>C	ENSP00000386966.3:p.Cys165Arg
ENST00000425545.2:n.183T>C
ENST00000452276.5:c.427T>C	ENSP00000388671.1:p.Cys143Arg
ENST00000453321.7:c.736T>C	ENSP00000389998.3:p.Cys246Arg
ENST00000453906.5:c.407-5609T>C	ENSP00000403035.1:n.407-5609T>C
ENST00000474944.5:n.427-5609T>C
ENST00000496213.5:n.201T>C
NM_001142301.1:c.493T>C , LRG_688t2:c.493T>C	NP_001135773.1:p.Cys165Arg
NM_153704.5:c.736T>C , LRG_688t1:c.736T>C	NP_714915.3:p.Cys246Arg
NR_024522.1:n.807T>C
XM_006716686.2:c.433T>C	XP_006716749.1:p.Cys145Arg
XM_006716687.2:c.136T>C	XP_006716750.1:p.Cys46Arg
XM_011517363.1:c.407-5609T>C	XP_011515665.1:n.407-5609T>C
XR_428387.1:n.794T>C
XR_928360.1:n.794T>C
XR_928361.1:n.794T>C
XR_928362.1:n.794T>C
XM_006716686.4:c.433T>C	XP_006716749.1:p.Cys145Arg
XM_011517363.3:c.407-5609T>C	XP_011515665.1:n.407-5609T>C
XM_024447326.1:c.82T>C	XP_024303094.1:p.Cys28Arg
XR_001745619.2:n.777T>C
XR_428387.2:n.777T>C
XR_928360.3:n.777T>C
XR_928362.3:n.777T>C
NM_153704.6:c.736T>C MANE Select	NP_714915.3:p.Cys246Arg
NR_024522.2:n.757T>C