Canonical Allele Identifier: CA371689855

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798564A>C (hg19) ; chr8:g.93786336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786336A>C , CM000670.2:g.93786336A>C	GRCh38
NC_000008.10:g.94798564A>C , CM000670.1:g.94798564A>C	GRCh37
NC_000008.9:g.94867740A>C	NCBI36
NG_009190.1:g.36493A>C , LRG_688:g.36493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1402A>C	ENSP00000314488.4:p.Ile468Leu
ENST00000409623.8:c.1357A>C	ENSP00000386966.4:p.Ile453Leu
ENST00000452276.6:c.1402A>C	ENSP00000388671.2:p.Ile468Leu
ENST00000453906.6:c.520A>C	ENSP00000403035.2:p.Ile174Leu
ENST00000520680.2:c.1402A>C	ENSP00000428785.2:p.Ile468Leu
ENST00000521517.6:c.1402A>C	ENSP00000430740.2:p.Ile468Leu
ENST00000681998.1:c.1223A>C	ENSP00000506773.1:n.1223A>C
ENST00000682036.1:c.520A>C	ENSP00000508390.1:p.Ile174Leu
ENST00000682577.1:c.1175A>C	ENSP00000506963.1:n.1175A>C
ENST00000682624.1:c.*976A>C	ENSP00000508343.1:n.*976A>C
ENST00000682700.1:c.1402A>C	ENSP00000507627.1:p.Ile468Leu
ENST00000682744.1:n.940A>C
ENST00000682804.1:n.1225A>C
ENST00000682837.1:c.891A>C	ENSP00000507920.1:n.891A>C
ENST00000682935.1:n.3452A>C
ENST00000682984.1:c.1063A>C	ENSP00000507209.1:p.Ile355Leu
ENST00000683078.1:c.1157A>C	ENSP00000506796.1:n.1157A>C
ENST00000683223.1:c.1134A>C	ENSP00000507685.1:n.1134A>C
ENST00000683238.1:n.2626A>C
ENST00000683249.1:n.2999A>C
ENST00000683336.1:c.1223A>C	ENSP00000507695.1:n.1223A>C
ENST00000683362.1:c.1063A>C	ENSP00000506985.1:p.Ile355Leu
ENST00000683850.1:n.1325A>C
ENST00000683919.1:c.1332A>C	ENSP00000507617.1:n.1332A>C
ENST00000683953.1:c.1313A>C	ENSP00000508375.1:n.1313A>C
ENST00000684023.1:c.1379A>C	ENSP00000507461.1:n.1379A>C
ENST00000684064.1:c.1093A>C	ENSP00000508192.1:p.Ile365Leu
ENST00000684089.1:n.2952A>C
ENST00000684149.1:c.*581A>C	ENSP00000507943.1:n.*581A>C
ENST00000684416.1:n.1361A>C
ENST00000684540.1:c.1332A>C	ENSP00000507987.1:n.1332A>C
ENST00000453321.8:c.1402A>C MANE Select	ENSP00000389998.3:p.Ile468Leu
ENST00000323130.7:c.1372A>C	ENSP00000314488.3:p.Ile458Leu
ENST00000409623.7:c.1159A>C	ENSP00000386966.3:p.Ile387Leu
ENST00000452276.5:c.1093A>C	ENSP00000388671.1:p.Ile365Leu
ENST00000453321.7:c.1402A>C	ENSP00000389998.3:p.Ile468Leu
ENST00000453906.5:c.520A>C	ENSP00000403035.1:p.Ile174Leu
ENST00000474944.5:n.540A>C
ENST00000520680.1:c.224A>C
NM_001142301.1:c.1159A>C , LRG_688t2:c.1159A>C	NP_001135773.1:p.Ile387Leu
NM_153704.5:c.1402A>C , LRG_688t1:c.1402A>C	NP_714915.3:p.Ile468Leu
NR_024522.1:n.1473A>C
XM_006716686.2:c.1099A>C	XP_006716749.1:p.Ile367Leu
XM_006716687.2:c.802A>C	XP_006716750.1:p.Ile268Leu
XM_011517363.1:c.520A>C	XP_011515665.1:p.Ile174Leu
XR_428387.1:n.1460A>C
XR_928360.1:n.1460A>C
XR_928361.1:n.1460A>C
XR_928362.1:n.1460A>C
XM_006716686.4:c.1099A>C	XP_006716749.1:p.Ile367Leu
XM_011517363.3:c.520A>C	XP_011515665.1:p.Ile174Leu
XM_024447326.1:c.748A>C	XP_024303094.1:p.Ile250Leu
XR_001745619.2:n.1443A>C
XR_428387.2:n.1443A>C
XR_928360.3:n.1443A>C
XR_928362.3:n.1443A>C
NM_153704.6:c.1402A>C MANE Select	NP_714915.3:p.Ile468Leu
NR_024522.2:n.1423A>C