Canonical Allele Identifier: CA371688097

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792966T>C (hg19) ; chr8:g.93780738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780738T>C , CM000670.2:g.93780738T>C	GRCh38
NC_000008.10:g.94792966T>C , CM000670.1:g.94792966T>C	GRCh37
NC_000008.9:g.94862142T>C	NCBI36
NG_009190.1:g.30895T>C , LRG_688:g.30895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.860T>C	ENSP00000314488.4:p.Ile287Thr
ENST00000409623.8:c.860T>C	ENSP00000386966.4:p.Ile287Thr
ENST00000452276.6:c.860T>C	ENSP00000388671.2:p.Ile287Thr
ENST00000453906.6:c.407-5485T>C	ENSP00000403035.2:n.407-5485T>C
ENST00000520680.2:c.860T>C	ENSP00000428785.2:p.Ile287Thr
ENST00000521065.2:c.*577T>C	ENSP00000427947.2:n.*577T>C
ENST00000521517.6:c.860T>C	ENSP00000430740.2:p.Ile287Thr
ENST00000681998.1:c.790T>C	ENSP00000506773.1:n.790T>C
ENST00000682036.1:c.407-5485T>C	ENSP00000508390.1:n.407-5485T>C
ENST00000682577.1:c.790T>C	ENSP00000506963.1:n.790T>C
ENST00000682624.1:c.*434T>C	ENSP00000508343.1:n.*434T>C
ENST00000682700.1:c.860T>C	ENSP00000507627.1:p.Ile287Thr
ENST00000682744.1:n.398T>C
ENST00000682804.1:n.683T>C
ENST00000682837.1:c.615T>C	ENSP00000507920.1:n.615T>C
ENST00000682935.1:n.2420T>C
ENST00000682984.1:c.521T>C	ENSP00000507209.1:p.Ile174Thr
ENST00000683078.1:c.615T>C	ENSP00000506796.1:n.615T>C
ENST00000683223.1:c.701T>C	ENSP00000507685.1:n.701T>C
ENST00000683238.1:n.2241T>C
ENST00000683249.1:n.2441T>C
ENST00000683336.1:c.790T>C	ENSP00000507695.1:n.790T>C
ENST00000683362.1:c.521T>C	ENSP00000506985.1:p.Ile174Thr
ENST00000683850.1:n.783T>C
ENST00000683919.1:c.790T>C	ENSP00000507617.1:n.790T>C
ENST00000683953.1:c.771T>C	ENSP00000508375.1:n.771T>C
ENST00000684023.1:c.994T>C	ENSP00000507461.1:n.994T>C
ENST00000684064.1:c.551T>C	ENSP00000508192.1:p.Ile184Thr
ENST00000684089.1:n.2410T>C
ENST00000684149.1:c.*196T>C	ENSP00000507943.1:n.*196T>C
ENST00000684416.1:n.819T>C
ENST00000684540.1:c.790T>C	ENSP00000507987.1:n.790T>C
ENST00000453321.8:c.860T>C MANE Select	ENSP00000389998.3:p.Ile287Thr
ENST00000323130.7:c.830T>C	ENSP00000314488.3:p.Ile277Thr
ENST00000409623.7:c.617T>C	ENSP00000386966.3:p.Ile206Thr
ENST00000425545.2:n.307T>C
ENST00000452276.5:c.551T>C	ENSP00000388671.1:p.Ile184Thr
ENST00000453321.7:c.860T>C	ENSP00000389998.3:p.Ile287Thr
ENST00000453906.5:c.407-5485T>C	ENSP00000403035.1:n.407-5485T>C
ENST00000474944.5:n.427-5485T>C
ENST00000496213.5:n.325T>C
NM_001142301.1:c.617T>C , LRG_688t2:c.617T>C	NP_001135773.1:p.Ile206Thr
NM_153704.5:c.860T>C , LRG_688t1:c.860T>C	NP_714915.3:p.Ile287Thr
NR_024522.1:n.931T>C
XM_006716686.2:c.557T>C	XP_006716749.1:p.Ile186Thr
XM_006716687.2:c.260T>C	XP_006716750.1:p.Ile87Thr
XM_011517363.1:c.407-5485T>C	XP_011515665.1:n.407-5485T>C
XR_428387.1:n.918T>C
XR_928360.1:n.918T>C
XR_928361.1:n.918T>C
XR_928362.1:n.918T>C
XM_006716686.4:c.557T>C	XP_006716749.1:p.Ile186Thr
XM_011517363.3:c.407-5485T>C	XP_011515665.1:n.407-5485T>C
XM_024447326.1:c.206T>C	XP_024303094.1:p.Ile69Thr
XR_001745619.2:n.901T>C
XR_428387.2:n.901T>C
XR_928360.3:n.901T>C
XR_928362.3:n.901T>C
NM_153704.6:c.860T>C MANE Select	NP_714915.3:p.Ile287Thr
NR_024522.2:n.881T>C