Canonical Allele Identifier: CA461858945

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93786287-A-C
• MyVariant Identifiers: chr8:g.94798515A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786287A>C , CM000670.2:g.93786287A>C	GRCh38
NC_000008.10:g.94798515A>C , CM000670.1:g.94798515A>C	GRCh37
NC_000008.9:g.94867691A>C	NCBI36
NG_009190.1:g.36444A>C , LRG_688:g.36444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1353A>C	ENSP00000314488.4:p.Arg451=
ENST00000409623.8:c.1308A>C	ENSP00000386966.4:p.Arg436=
ENST00000452276.6:c.1353A>C	ENSP00000388671.2:p.Arg451=
ENST00000453906.6:c.471A>C	ENSP00000403035.2:p.Arg157=
ENST00000520680.2:c.1353A>C	ENSP00000428785.2:p.Arg451=
ENST00000521517.6:c.1353A>C	ENSP00000430740.2:p.Arg451=
ENST00000681998.1:c.1174A>C	ENSP00000506773.1:n.1174A>C
ENST00000682036.1:c.471A>C	ENSP00000508390.1:p.Arg157=
ENST00000682577.1:c.1126A>C	ENSP00000506963.1:n.1126A>C
ENST00000682624.1:c.*927A>C	ENSP00000508343.1:n.*927A>C
ENST00000682700.1:c.1353A>C	ENSP00000507627.1:p.Arg451=
ENST00000682744.1:n.891A>C
ENST00000682804.1:n.1176A>C
ENST00000682837.1:c.842A>C	ENSP00000507920.1:n.842A>C
ENST00000682935.1:n.3403A>C
ENST00000682984.1:c.1014A>C	ENSP00000507209.1:p.Arg338=
ENST00000683078.1:c.1108A>C	ENSP00000506796.1:n.1108A>C
ENST00000683223.1:c.1085A>C	ENSP00000507685.1:n.1085A>C
ENST00000683238.1:n.2577A>C
ENST00000683249.1:n.2950A>C
ENST00000683336.1:c.1174A>C	ENSP00000507695.1:n.1174A>C
ENST00000683362.1:c.1014A>C	ENSP00000506985.1:p.Arg338=
ENST00000683850.1:n.1276A>C
ENST00000683919.1:c.1283A>C	ENSP00000507617.1:n.1283A>C
ENST00000683953.1:c.1264A>C	ENSP00000508375.1:n.1264A>C
ENST00000684023.1:c.1330A>C	ENSP00000507461.1:n.1330A>C
ENST00000684064.1:c.1044A>C	ENSP00000508192.1:p.Arg348=
ENST00000684089.1:n.2903A>C
ENST00000684149.1:c.*532A>C	ENSP00000507943.1:n.*532A>C
ENST00000684416.1:n.1312A>C
ENST00000684540.1:c.1283A>C	ENSP00000507987.1:n.1283A>C
ENST00000453321.8:c.1353A>C MANE Select	ENSP00000389998.3:p.Arg451=
ENST00000323130.7:c.1323A>C	ENSP00000314488.3:p.Arg441=
ENST00000409623.7:c.1110A>C	ENSP00000386966.3:p.Arg370=
ENST00000452276.5:c.1044A>C	ENSP00000388671.1:p.Arg348=
ENST00000453321.7:c.1353A>C	ENSP00000389998.3:p.Arg451=
ENST00000453906.5:c.471A>C	ENSP00000403035.1:p.Arg157=
ENST00000474944.5:n.491A>C
ENST00000520680.1:c.175A>C
NM_001142301.1:c.1110A>C , LRG_688t2:c.1110A>C	NP_001135773.1:p.Arg370=
NM_153704.5:c.1353A>C , LRG_688t1:c.1353A>C	NP_714915.3:p.Arg451=
NR_024522.1:n.1424A>C
XM_006716686.2:c.1050A>C	XP_006716749.1:p.Arg350=
XM_006716687.2:c.753A>C	XP_006716750.1:p.Arg251=
XM_011517363.1:c.471A>C	XP_011515665.1:p.Arg157=
XR_428387.1:n.1411A>C
XR_928360.1:n.1411A>C
XR_928361.1:n.1411A>C
XR_928362.1:n.1411A>C
XM_006716686.4:c.1050A>C	XP_006716749.1:p.Arg350=
XM_011517363.3:c.471A>C	XP_011515665.1:p.Arg157=
XM_024447326.1:c.699A>C	XP_024303094.1:p.Arg233=
XR_001745619.2:n.1394A>C
XR_428387.2:n.1394A>C
XR_928360.3:n.1394A>C
XR_928362.3:n.1394A>C
NM_153704.6:c.1353A>C MANE Select	NP_714915.3:p.Arg451=
NR_024522.2:n.1374A>C