Canonical Allele Identifier: CA371689704

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798489T>A (hg19) ; chr8:g.93786261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786261T>A , CM000670.2:g.93786261T>A	GRCh38
NC_000008.10:g.94798489T>A , CM000670.1:g.94798489T>A	GRCh37
NC_000008.9:g.94867665T>A	NCBI36
NG_009190.1:g.36418T>A , LRG_688:g.36418T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1327T>A	ENSP00000314488.4:p.Phe443Ile
ENST00000409623.8:c.1289-7T>A	ENSP00000386966.4:n.1289-7T>A
ENST00000452276.6:c.1327T>A	ENSP00000388671.2:p.Phe443Ile
ENST00000453906.6:c.445T>A	ENSP00000403035.2:p.Phe149Ile
ENST00000520680.2:c.1327T>A	ENSP00000428785.2:p.Phe443Ile
ENST00000521517.6:c.1327T>A	ENSP00000430740.2:p.Phe443Ile
ENST00000681998.1:c.1148T>A	ENSP00000506773.1:n.1148T>A
ENST00000682036.1:c.445T>A	ENSP00000508390.1:p.Phe149Ile
ENST00000682577.1:c.1100T>A	ENSP00000506963.1:n.1100T>A
ENST00000682624.1:c.*901T>A	ENSP00000508343.1:n.*901T>A
ENST00000682700.1:c.1327T>A	ENSP00000507627.1:p.Phe443Ile
ENST00000682744.1:n.865T>A
ENST00000682804.1:n.1150T>A
ENST00000682837.1:c.816T>A	ENSP00000507920.1:n.816T>A
ENST00000682935.1:n.3377T>A
ENST00000682984.1:c.988T>A	ENSP00000507209.1:p.Phe330Ile
ENST00000683078.1:c.1082T>A	ENSP00000506796.1:n.1082T>A
ENST00000683223.1:c.1059T>A	ENSP00000507685.1:n.1059T>A
ENST00000683238.1:n.2551T>A
ENST00000683249.1:n.2924T>A
ENST00000683336.1:c.1148T>A	ENSP00000507695.1:n.1148T>A
ENST00000683362.1:c.988T>A	ENSP00000506985.1:p.Phe330Ile
ENST00000683850.1:n.1250T>A
ENST00000683919.1:c.1257T>A	ENSP00000507617.1:n.1257T>A
ENST00000683953.1:c.1238T>A	ENSP00000508375.1:n.1238T>A
ENST00000684023.1:c.1304T>A	ENSP00000507461.1:n.1304T>A
ENST00000684064.1:c.1018T>A	ENSP00000508192.1:p.Phe340Ile
ENST00000684089.1:n.2877T>A
ENST00000684149.1:c.*506T>A	ENSP00000507943.1:n.*506T>A
ENST00000684416.1:n.1286T>A
ENST00000684540.1:c.1257T>A	ENSP00000507987.1:n.1257T>A
ENST00000453321.8:c.1327T>A MANE Select	ENSP00000389998.3:p.Phe443Ile
ENST00000323130.7:c.1297T>A	ENSP00000314488.3:p.Phe433Ile
ENST00000409623.7:c.1084T>A	ENSP00000386966.3:p.Phe362Ile
ENST00000452276.5:c.1018T>A	ENSP00000388671.1:p.Phe340Ile
ENST00000453321.7:c.1327T>A	ENSP00000389998.3:p.Phe443Ile
ENST00000453906.5:c.445T>A	ENSP00000403035.1:p.Phe149Ile
ENST00000474944.5:n.465T>A
ENST00000520680.1:c.149T>A
NM_001142301.1:c.1084T>A , LRG_688t2:c.1084T>A	NP_001135773.1:p.Phe362Ile
NM_153704.5:c.1327T>A , LRG_688t1:c.1327T>A	NP_714915.3:p.Phe443Ile
NR_024522.1:n.1398T>A
XM_006716686.2:c.1024T>A	XP_006716749.1:p.Phe342Ile
XM_006716687.2:c.727T>A	XP_006716750.1:p.Phe243Ile
XM_011517363.1:c.445T>A	XP_011515665.1:p.Phe149Ile
XR_428387.1:n.1385T>A
XR_928360.1:n.1385T>A
XR_928361.1:n.1385T>A
XR_928362.1:n.1385T>A
XM_006716686.4:c.1024T>A	XP_006716749.1:p.Phe342Ile
XM_011517363.3:c.445T>A	XP_011515665.1:p.Phe149Ile
XM_024447326.1:c.673T>A	XP_024303094.1:p.Phe225Ile
XR_001745619.2:n.1368T>A
XR_428387.2:n.1368T>A
XR_928360.3:n.1368T>A
XR_928362.3:n.1368T>A
NM_153704.6:c.1327T>A MANE Select	NP_714915.3:p.Phe443Ile
NR_024522.2:n.1348T>A