Canonical Allele Identifier: CA461858809

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798482G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786254G>A , CM000670.2:g.93786254G>A	GRCh38
NC_000008.10:g.94798482G>A , CM000670.1:g.94798482G>A	GRCh37
NC_000008.9:g.94867658G>A	NCBI36
NG_009190.1:g.36411G>A , LRG_688:g.36411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1320G>A	ENSP00000314488.4:p.Arg440=
ENST00000409623.8:c.1289-14G>A	ENSP00000386966.4:n.1289-14G>A
ENST00000452276.6:c.1320G>A	ENSP00000388671.2:p.Arg440=
ENST00000453906.6:c.438G>A	ENSP00000403035.2:p.Arg146=
ENST00000520680.2:c.1320G>A	ENSP00000428785.2:p.Arg440=
ENST00000521517.6:c.1320G>A	ENSP00000430740.2:p.Arg440=
ENST00000681998.1:c.1141G>A	ENSP00000506773.1:n.1141G>A
ENST00000682036.1:c.438G>A	ENSP00000508390.1:p.Arg146=
ENST00000682577.1:c.1093G>A	ENSP00000506963.1:n.1093G>A
ENST00000682624.1:c.*894G>A	ENSP00000508343.1:n.*894G>A
ENST00000682700.1:c.1320G>A	ENSP00000507627.1:p.Arg440=
ENST00000682744.1:n.858G>A
ENST00000682804.1:n.1143G>A
ENST00000682837.1:c.809G>A	ENSP00000507920.1:n.809G>A
ENST00000682935.1:n.3370G>A
ENST00000682984.1:c.981G>A	ENSP00000507209.1:p.Arg327=
ENST00000683078.1:c.1075G>A	ENSP00000506796.1:n.1075G>A
ENST00000683223.1:c.1052G>A	ENSP00000507685.1:n.1052G>A
ENST00000683238.1:n.2544G>A
ENST00000683249.1:n.2917G>A
ENST00000683336.1:c.1141G>A	ENSP00000507695.1:n.1141G>A
ENST00000683362.1:c.981G>A	ENSP00000506985.1:p.Arg327=
ENST00000683850.1:n.1243G>A
ENST00000683919.1:c.1250G>A	ENSP00000507617.1:n.1250G>A
ENST00000683953.1:c.1231G>A	ENSP00000508375.1:n.1231G>A
ENST00000684023.1:c.1297G>A	ENSP00000507461.1:n.1297G>A
ENST00000684064.1:c.1011G>A	ENSP00000508192.1:p.Arg337=
ENST00000684089.1:n.2870G>A
ENST00000684149.1:c.*499G>A	ENSP00000507943.1:n.*499G>A
ENST00000684416.1:n.1279G>A
ENST00000684540.1:c.1250G>A	ENSP00000507987.1:n.1250G>A
ENST00000453321.8:c.1320G>A MANE Select	ENSP00000389998.3:p.Arg440=
ENST00000323130.7:c.1290G>A	ENSP00000314488.3:p.Arg430=
ENST00000409623.7:c.1077G>A	ENSP00000386966.3:p.Arg359=
ENST00000452276.5:c.1011G>A	ENSP00000388671.1:p.Arg337=
ENST00000453321.7:c.1320G>A	ENSP00000389998.3:p.Arg440=
ENST00000453906.5:c.438G>A	ENSP00000403035.1:p.Arg146=
ENST00000474944.5:n.458G>A
ENST00000520680.1:c.142G>A
NM_001142301.1:c.1077G>A , LRG_688t2:c.1077G>A	NP_001135773.1:p.Arg359=
NM_153704.5:c.1320G>A , LRG_688t1:c.1320G>A	NP_714915.3:p.Arg440=
NR_024522.1:n.1391G>A
XM_006716686.2:c.1017G>A	XP_006716749.1:p.Arg339=
XM_006716687.2:c.720G>A	XP_006716750.1:p.Arg240=
XM_011517363.1:c.438G>A	XP_011515665.1:p.Arg146=
XR_428387.1:n.1378G>A
XR_928360.1:n.1378G>A
XR_928361.1:n.1378G>A
XR_928362.1:n.1378G>A
XM_006716686.4:c.1017G>A	XP_006716749.1:p.Arg339=
XM_011517363.3:c.438G>A	XP_011515665.1:p.Arg146=
XM_024447326.1:c.666G>A	XP_024303094.1:p.Arg222=
XR_001745619.2:n.1361G>A
XR_428387.2:n.1361G>A
XR_928360.3:n.1361G>A
XR_928362.3:n.1361G>A
NM_153704.6:c.1320G>A MANE Select	NP_714915.3:p.Arg440=
NR_024522.2:n.1341G>A