Canonical Allele Identifier: CA371689697

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798486A>C (hg19) ; chr8:g.93786258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786258A>C , CM000670.2:g.93786258A>C	GRCh38
NC_000008.10:g.94798486A>C , CM000670.1:g.94798486A>C	GRCh37
NC_000008.9:g.94867662A>C	NCBI36
NG_009190.1:g.36415A>C , LRG_688:g.36415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1324A>C	ENSP00000314488.4:p.Ile442Leu
ENST00000409623.8:c.1289-10A>C	ENSP00000386966.4:n.1289-10A>C
ENST00000452276.6:c.1324A>C	ENSP00000388671.2:p.Ile442Leu
ENST00000453906.6:c.442A>C	ENSP00000403035.2:p.Ile148Leu
ENST00000520680.2:c.1324A>C	ENSP00000428785.2:p.Ile442Leu
ENST00000521517.6:c.1324A>C	ENSP00000430740.2:p.Ile442Leu
ENST00000681998.1:c.1145A>C	ENSP00000506773.1:n.1145A>C
ENST00000682036.1:c.442A>C	ENSP00000508390.1:p.Ile148Leu
ENST00000682577.1:c.1097A>C	ENSP00000506963.1:n.1097A>C
ENST00000682624.1:c.*898A>C	ENSP00000508343.1:n.*898A>C
ENST00000682700.1:c.1324A>C	ENSP00000507627.1:p.Ile442Leu
ENST00000682744.1:n.862A>C
ENST00000682804.1:n.1147A>C
ENST00000682837.1:c.813A>C	ENSP00000507920.1:n.813A>C
ENST00000682935.1:n.3374A>C
ENST00000682984.1:c.985A>C	ENSP00000507209.1:p.Ile329Leu
ENST00000683078.1:c.1079A>C	ENSP00000506796.1:n.1079A>C
ENST00000683223.1:c.1056A>C	ENSP00000507685.1:n.1056A>C
ENST00000683238.1:n.2548A>C
ENST00000683249.1:n.2921A>C
ENST00000683336.1:c.1145A>C	ENSP00000507695.1:n.1145A>C
ENST00000683362.1:c.985A>C	ENSP00000506985.1:p.Ile329Leu
ENST00000683850.1:n.1247A>C
ENST00000683919.1:c.1254A>C	ENSP00000507617.1:n.1254A>C
ENST00000683953.1:c.1235A>C	ENSP00000508375.1:n.1235A>C
ENST00000684023.1:c.1301A>C	ENSP00000507461.1:n.1301A>C
ENST00000684064.1:c.1015A>C	ENSP00000508192.1:p.Ile339Leu
ENST00000684089.1:n.2874A>C
ENST00000684149.1:c.*503A>C	ENSP00000507943.1:n.*503A>C
ENST00000684416.1:n.1283A>C
ENST00000684540.1:c.1254A>C	ENSP00000507987.1:n.1254A>C
ENST00000453321.8:c.1324A>C MANE Select	ENSP00000389998.3:p.Ile442Leu
ENST00000323130.7:c.1294A>C	ENSP00000314488.3:p.Ile432Leu
ENST00000409623.7:c.1081A>C	ENSP00000386966.3:p.Ile361Leu
ENST00000452276.5:c.1015A>C	ENSP00000388671.1:p.Ile339Leu
ENST00000453321.7:c.1324A>C	ENSP00000389998.3:p.Ile442Leu
ENST00000453906.5:c.442A>C	ENSP00000403035.1:p.Ile148Leu
ENST00000474944.5:n.462A>C
ENST00000520680.1:c.146A>C
NM_001142301.1:c.1081A>C , LRG_688t2:c.1081A>C	NP_001135773.1:p.Ile361Leu
NM_153704.5:c.1324A>C , LRG_688t1:c.1324A>C	NP_714915.3:p.Ile442Leu
NR_024522.1:n.1395A>C
XM_006716686.2:c.1021A>C	XP_006716749.1:p.Ile341Leu
XM_006716687.2:c.724A>C	XP_006716750.1:p.Ile242Leu
XM_011517363.1:c.442A>C	XP_011515665.1:p.Ile148Leu
XR_428387.1:n.1382A>C
XR_928360.1:n.1382A>C
XR_928361.1:n.1382A>C
XR_928362.1:n.1382A>C
XM_006716686.4:c.1021A>C	XP_006716749.1:p.Ile341Leu
XM_011517363.3:c.442A>C	XP_011515665.1:p.Ile148Leu
XM_024447326.1:c.670A>C	XP_024303094.1:p.Ile224Leu
XR_001745619.2:n.1365A>C
XR_428387.2:n.1365A>C
XR_928360.3:n.1365A>C
XR_928362.3:n.1365A>C
NM_153704.6:c.1324A>C MANE Select	NP_714915.3:p.Ile442Leu
NR_024522.2:n.1345A>C