Canonical Allele Identifier: CA371689701

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798487T>C (hg19) ; chr8:g.93786259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786259T>C , CM000670.2:g.93786259T>C	GRCh38
NC_000008.10:g.94798487T>C , CM000670.1:g.94798487T>C	GRCh37
NC_000008.9:g.94867663T>C	NCBI36
NG_009190.1:g.36416T>C , LRG_688:g.36416T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1325T>C	ENSP00000314488.4:p.Ile442Thr
ENST00000409623.8:c.1289-9T>C	ENSP00000386966.4:n.1289-9T>C
ENST00000452276.6:c.1325T>C	ENSP00000388671.2:p.Ile442Thr
ENST00000453906.6:c.443T>C	ENSP00000403035.2:p.Ile148Thr
ENST00000520680.2:c.1325T>C	ENSP00000428785.2:p.Ile442Thr
ENST00000521517.6:c.1325T>C	ENSP00000430740.2:p.Ile442Thr
ENST00000681998.1:c.1146T>C	ENSP00000506773.1:n.1146T>C
ENST00000682036.1:c.443T>C	ENSP00000508390.1:p.Ile148Thr
ENST00000682577.1:c.1098T>C	ENSP00000506963.1:n.1098T>C
ENST00000682624.1:c.*899T>C	ENSP00000508343.1:n.*899T>C
ENST00000682700.1:c.1325T>C	ENSP00000507627.1:p.Ile442Thr
ENST00000682744.1:n.863T>C
ENST00000682804.1:n.1148T>C
ENST00000682837.1:c.814T>C	ENSP00000507920.1:n.814T>C
ENST00000682935.1:n.3375T>C
ENST00000682984.1:c.986T>C	ENSP00000507209.1:p.Ile329Thr
ENST00000683078.1:c.1080T>C	ENSP00000506796.1:n.1080T>C
ENST00000683223.1:c.1057T>C	ENSP00000507685.1:n.1057T>C
ENST00000683238.1:n.2549T>C
ENST00000683249.1:n.2922T>C
ENST00000683336.1:c.1146T>C	ENSP00000507695.1:n.1146T>C
ENST00000683362.1:c.986T>C	ENSP00000506985.1:p.Ile329Thr
ENST00000683850.1:n.1248T>C
ENST00000683919.1:c.1255T>C	ENSP00000507617.1:n.1255T>C
ENST00000683953.1:c.1236T>C	ENSP00000508375.1:n.1236T>C
ENST00000684023.1:c.1302T>C	ENSP00000507461.1:n.1302T>C
ENST00000684064.1:c.1016T>C	ENSP00000508192.1:p.Ile339Thr
ENST00000684089.1:n.2875T>C
ENST00000684149.1:c.*504T>C	ENSP00000507943.1:n.*504T>C
ENST00000684416.1:n.1284T>C
ENST00000684540.1:c.1255T>C	ENSP00000507987.1:n.1255T>C
ENST00000453321.8:c.1325T>C MANE Select	ENSP00000389998.3:p.Ile442Thr
ENST00000323130.7:c.1295T>C	ENSP00000314488.3:p.Ile432Thr
ENST00000409623.7:c.1082T>C	ENSP00000386966.3:p.Ile361Thr
ENST00000452276.5:c.1016T>C	ENSP00000388671.1:p.Ile339Thr
ENST00000453321.7:c.1325T>C	ENSP00000389998.3:p.Ile442Thr
ENST00000453906.5:c.443T>C	ENSP00000403035.1:p.Ile148Thr
ENST00000474944.5:n.463T>C
ENST00000520680.1:c.147T>C
NM_001142301.1:c.1082T>C , LRG_688t2:c.1082T>C	NP_001135773.1:p.Ile361Thr
NM_153704.5:c.1325T>C , LRG_688t1:c.1325T>C	NP_714915.3:p.Ile442Thr
NR_024522.1:n.1396T>C
XM_006716686.2:c.1022T>C	XP_006716749.1:p.Ile341Thr
XM_006716687.2:c.725T>C	XP_006716750.1:p.Ile242Thr
XM_011517363.1:c.443T>C	XP_011515665.1:p.Ile148Thr
XR_428387.1:n.1383T>C
XR_928360.1:n.1383T>C
XR_928361.1:n.1383T>C
XR_928362.1:n.1383T>C
XM_006716686.4:c.1022T>C	XP_006716749.1:p.Ile341Thr
XM_011517363.3:c.443T>C	XP_011515665.1:p.Ile148Thr
XM_024447326.1:c.671T>C	XP_024303094.1:p.Ile224Thr
XR_001745619.2:n.1366T>C
XR_428387.2:n.1366T>C
XR_928360.3:n.1366T>C
XR_928362.3:n.1366T>C
NM_153704.6:c.1325T>C MANE Select	NP_714915.3:p.Ile442Thr
NR_024522.2:n.1346T>C