Canonical Allele Identifier: CA181341875

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93799645A>G , CM000670.2:g.93799645A>G	GRCh38
NC_000008.10:g.94811873A>G , CM000670.1:g.94811873A>G	GRCh37
NC_000008.9:g.94881049A>G	NCBI36
NG_009190.1:g.49802A>G , LRG_688:g.49802A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2128A>G MANE Select	NP_714915.3:p.Met710Val
ENST00000453321.8:c.2128A>G MANE Select	ENSP00000389998.3:p.Met710Val
NM_001142301.1:c.1885A>G , LRG_688t2:c.1885A>G	NP_001135773.1:p.Met629Val
NM_153704.5:c.2128A>G , LRG_688t1:c.2128A>G	NP_714915.3:p.Met710Val
NR_024522.1:n.2199A>G
NR_024522.2:n.2149A>G
ENST00000323130.7:c.2098A>G	ENSP00000314488.3:p.Met700Val
ENST00000323130.8:c.2128A>G	ENSP00000314488.4:p.Met710Val
ENST00000409623.7:c.1885A>G	ENSP00000386966.3:p.Met629Val
ENST00000409623.8:c.2083A>G	ENSP00000386966.4:p.Met695Val
ENST00000452276.6:c.2128A>G	ENSP00000388671.2:p.Met710Val
ENST00000453321.7:c.2128A>G	ENSP00000389998.3:p.Met710Val
ENST00000453906.6:c.1246A>G	ENSP00000403035.2:p.Met416Val
ENST00000474944.5:n.1266A>G
ENST00000518896.2:c.419A>G	ENSP00000507992.1:n.419A>G
ENST00000519845.5:n.860A>G
ENST00000520680.2:c.2251A>G	ENSP00000428785.2:p.Met751Val
ENST00000521517.6:c.2029A>G	ENSP00000430740.2:p.Met677Val
ENST00000681998.1:c.1949A>G	ENSP00000506773.1:n.1949A>G
ENST00000682036.1:c.1369A>G	ENSP00000508390.1:p.Met457Val
ENST00000682577.1:c.1901A>G	ENSP00000506963.1:n.1901A>G
ENST00000682624.1:c.*1702A>G	ENSP00000508343.1:n.*1702A>G
ENST00000682700.1:c.2128A>G	ENSP00000507627.1:p.Met710Val
ENST00000682744.1:n.1666A>G
ENST00000682804.1:n.1951A>G
ENST00000682837.1:c.1617A>G	ENSP00000507920.1:n.1617A>G
ENST00000682935.1:n.4178A>G
ENST00000682984.1:c.1789A>G	ENSP00000507209.1:p.Met597Val
ENST00000683078.1:c.1883A>G	ENSP00000506796.1:n.1883A>G
ENST00000683223.1:c.1860A>G	ENSP00000507685.1:n.1860A>G
ENST00000683238.1:n.3352A>G
ENST00000683249.1:n.3725A>G
ENST00000683336.1:c.1949A>G	ENSP00000507695.1:n.1949A>G
ENST00000683362.1:c.1789A>G	ENSP00000506985.1:p.Met597Val
ENST00000683850.1:n.2051A>G
ENST00000683919.1:c.2058A>G	ENSP00000507617.1:n.2058A>G
ENST00000683953.1:c.2039A>G	ENSP00000508375.1:n.2039A>G
ENST00000684023.1:c.2105A>G	ENSP00000507461.1:n.2105A>G
ENST00000684064.1:c.1819A>G	ENSP00000508192.1:p.Met607Val
ENST00000684089.1:n.3678A>G
ENST00000684149.1:c.*1307A>G	ENSP00000507943.1:n.*1307A>G
ENST00000684343.1:c.325A>G	ENSP00000507591.1:p.Met109Val
ENST00000684416.1:n.2087A>G
ENST00000684540.1:c.2058A>G	ENSP00000507987.1:n.2058A>G
XM_006716686.2:c.1825A>G	XP_006716749.1:p.Met609Val
XM_006716686.4:c.1825A>G	XP_006716749.1:p.Met609Val
XM_006716687.2:c.1528A>G	XP_006716750.1:p.Met510Val
XM_011517363.1:c.1246A>G	XP_011515665.1:p.Met416Val
XM_011517363.3:c.1246A>G	XP_011515665.1:p.Met416Val
XM_024447326.1:c.1474A>G	XP_024303094.1:p.Met492Val
XR_001745619.2:n.2169A>G
XR_428387.1:n.2186A>G
XR_428387.2:n.2169A>G
XR_928360.1:n.2186A>G
XR_928360.3:n.2169A>G
XR_928361.1:n.2186A>G
XR_928362.1:n.2186A>G
XR_928362.3:n.2169A>G