Canonical Allele Identifier: CA461858906

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798506A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786278A>C , CM000670.2:g.93786278A>C	GRCh38
NC_000008.10:g.94798506A>C , CM000670.1:g.94798506A>C	GRCh37
NC_000008.9:g.94867682A>C	NCBI36
NG_009190.1:g.36435A>C , LRG_688:g.36435A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1344A>C	ENSP00000314488.4:p.Val448=
ENST00000409623.8:c.1299A>C	ENSP00000386966.4:p.Val433=
ENST00000452276.6:c.1344A>C	ENSP00000388671.2:p.Val448=
ENST00000453906.6:c.462A>C	ENSP00000403035.2:p.Val154=
ENST00000520680.2:c.1344A>C	ENSP00000428785.2:p.Val448=
ENST00000521517.6:c.1344A>C	ENSP00000430740.2:p.Val448=
ENST00000681998.1:c.1165A>C	ENSP00000506773.1:n.1165A>C
ENST00000682036.1:c.462A>C	ENSP00000508390.1:p.Val154=
ENST00000682577.1:c.1117A>C	ENSP00000506963.1:n.1117A>C
ENST00000682624.1:c.*918A>C	ENSP00000508343.1:n.*918A>C
ENST00000682700.1:c.1344A>C	ENSP00000507627.1:p.Val448=
ENST00000682744.1:n.882A>C
ENST00000682804.1:n.1167A>C
ENST00000682837.1:c.833A>C	ENSP00000507920.1:n.833A>C
ENST00000682935.1:n.3394A>C
ENST00000682984.1:c.1005A>C	ENSP00000507209.1:p.Val335=
ENST00000683078.1:c.1099A>C	ENSP00000506796.1:n.1099A>C
ENST00000683223.1:c.1076A>C	ENSP00000507685.1:n.1076A>C
ENST00000683238.1:n.2568A>C
ENST00000683249.1:n.2941A>C
ENST00000683336.1:c.1165A>C	ENSP00000507695.1:n.1165A>C
ENST00000683362.1:c.1005A>C	ENSP00000506985.1:p.Val335=
ENST00000683850.1:n.1267A>C
ENST00000683919.1:c.1274A>C	ENSP00000507617.1:n.1274A>C
ENST00000683953.1:c.1255A>C	ENSP00000508375.1:n.1255A>C
ENST00000684023.1:c.1321A>C	ENSP00000507461.1:n.1321A>C
ENST00000684064.1:c.1035A>C	ENSP00000508192.1:p.Val345=
ENST00000684089.1:n.2894A>C
ENST00000684149.1:c.*523A>C	ENSP00000507943.1:n.*523A>C
ENST00000684416.1:n.1303A>C
ENST00000684540.1:c.1274A>C	ENSP00000507987.1:n.1274A>C
ENST00000453321.8:c.1344A>C MANE Select	ENSP00000389998.3:p.Val448=
ENST00000323130.7:c.1314A>C	ENSP00000314488.3:p.Val438=
ENST00000409623.7:c.1101A>C	ENSP00000386966.3:p.Val367=
ENST00000452276.5:c.1035A>C	ENSP00000388671.1:p.Val345=
ENST00000453321.7:c.1344A>C	ENSP00000389998.3:p.Val448=
ENST00000453906.5:c.462A>C	ENSP00000403035.1:p.Val154=
ENST00000474944.5:n.482A>C
ENST00000520680.1:c.166A>C
NM_001142301.1:c.1101A>C , LRG_688t2:c.1101A>C	NP_001135773.1:p.Val367=
NM_153704.5:c.1344A>C , LRG_688t1:c.1344A>C	NP_714915.3:p.Val448=
NR_024522.1:n.1415A>C
XM_006716686.2:c.1041A>C	XP_006716749.1:p.Val347=
XM_006716687.2:c.744A>C	XP_006716750.1:p.Val248=
XM_011517363.1:c.462A>C	XP_011515665.1:p.Val154=
XR_428387.1:n.1402A>C
XR_928360.1:n.1402A>C
XR_928361.1:n.1402A>C
XR_928362.1:n.1402A>C
XM_006716686.4:c.1041A>C	XP_006716749.1:p.Val347=
XM_011517363.3:c.462A>C	XP_011515665.1:p.Val154=
XM_024447326.1:c.690A>C	XP_024303094.1:p.Val230=
XR_001745619.2:n.1385A>C
XR_428387.2:n.1385A>C
XR_928360.3:n.1385A>C
XR_928362.3:n.1385A>C
NM_153704.6:c.1344A>C MANE Select	NP_714915.3:p.Val448=
NR_024522.2:n.1365A>C