Canonical Allele Identifier: CA461859011

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2947385
• ClinVar RCV Id: RCV003801575
• MyVariant Identifiers: chr8:g.94798533T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786305T>C , CM000670.2:g.93786305T>C	GRCh38
NC_000008.10:g.94798533T>C , CM000670.1:g.94798533T>C	GRCh37
NC_000008.9:g.94867709T>C	NCBI36
NG_009190.1:g.36462T>C , LRG_688:g.36462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1371T>C	ENSP00000314488.4:p.Thr457=
ENST00000409623.8:c.1326T>C	ENSP00000386966.4:p.Thr442=
ENST00000452276.6:c.1371T>C	ENSP00000388671.2:p.Thr457=
ENST00000453906.6:c.489T>C	ENSP00000403035.2:p.Thr163=
ENST00000520680.2:c.1371T>C	ENSP00000428785.2:p.Thr457=
ENST00000521517.6:c.1371T>C	ENSP00000430740.2:p.Thr457=
ENST00000681998.1:c.1192T>C	ENSP00000506773.1:n.1192T>C
ENST00000682036.1:c.489T>C	ENSP00000508390.1:p.Thr163=
ENST00000682577.1:c.1144T>C	ENSP00000506963.1:n.1144T>C
ENST00000682624.1:c.*945T>C	ENSP00000508343.1:n.*945T>C
ENST00000682700.1:c.1371T>C	ENSP00000507627.1:p.Thr457=
ENST00000682744.1:n.909T>C
ENST00000682804.1:n.1194T>C
ENST00000682837.1:c.860T>C	ENSP00000507920.1:n.860T>C
ENST00000682935.1:n.3421T>C
ENST00000682984.1:c.1032T>C	ENSP00000507209.1:p.Thr344=
ENST00000683078.1:c.1126T>C	ENSP00000506796.1:n.1126T>C
ENST00000683223.1:c.1103T>C	ENSP00000507685.1:n.1103T>C
ENST00000683238.1:n.2595T>C
ENST00000683249.1:n.2968T>C
ENST00000683336.1:c.1192T>C	ENSP00000507695.1:n.1192T>C
ENST00000683362.1:c.1032T>C	ENSP00000506985.1:p.Thr344=
ENST00000683850.1:n.1294T>C
ENST00000683919.1:c.1301T>C	ENSP00000507617.1:n.1301T>C
ENST00000683953.1:c.1282T>C	ENSP00000508375.1:n.1282T>C
ENST00000684023.1:c.1348T>C	ENSP00000507461.1:n.1348T>C
ENST00000684064.1:c.1062T>C	ENSP00000508192.1:p.Thr354=
ENST00000684089.1:n.2921T>C
ENST00000684149.1:c.*550T>C	ENSP00000507943.1:n.*550T>C
ENST00000684416.1:n.1330T>C
ENST00000684540.1:c.1301T>C	ENSP00000507987.1:n.1301T>C
ENST00000453321.8:c.1371T>C MANE Select	ENSP00000389998.3:p.Thr457=
ENST00000323130.7:c.1341T>C	ENSP00000314488.3:p.Thr447=
ENST00000409623.7:c.1128T>C	ENSP00000386966.3:p.Thr376=
ENST00000452276.5:c.1062T>C	ENSP00000388671.1:p.Thr354=
ENST00000453321.7:c.1371T>C	ENSP00000389998.3:p.Thr457=
ENST00000453906.5:c.489T>C	ENSP00000403035.1:p.Thr163=
ENST00000474944.5:n.509T>C
ENST00000520680.1:c.193T>C
NM_001142301.1:c.1128T>C , LRG_688t2:c.1128T>C	NP_001135773.1:p.Thr376=
NM_153704.5:c.1371T>C , LRG_688t1:c.1371T>C	NP_714915.3:p.Thr457=
NR_024522.1:n.1442T>C
XM_006716686.2:c.1068T>C	XP_006716749.1:p.Thr356=
XM_006716687.2:c.771T>C	XP_006716750.1:p.Thr257=
XM_011517363.1:c.489T>C	XP_011515665.1:p.Thr163=
XR_428387.1:n.1429T>C
XR_928360.1:n.1429T>C
XR_928361.1:n.1429T>C
XR_928362.1:n.1429T>C
XM_006716686.4:c.1068T>C	XP_006716749.1:p.Thr356=
XM_011517363.3:c.489T>C	XP_011515665.1:p.Thr163=
XM_024447326.1:c.717T>C	XP_024303094.1:p.Thr239=
XR_001745619.2:n.1412T>C
XR_428387.2:n.1412T>C
XR_928360.3:n.1412T>C
XR_928362.3:n.1412T>C
NM_153704.6:c.1371T>C MANE Select	NP_714915.3:p.Thr457=
NR_024522.2:n.1392T>C