Canonical Allele Identifier: CA371698900

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821084A>T (hg19) ; chr8:g.93808856A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808856A>T , CM000670.2:g.93808856A>T	GRCh38
NC_000008.10:g.94821084A>T , CM000670.1:g.94821084A>T	GRCh37
NC_000008.9:g.94890260A>T	NCBI36
NG_009190.1:g.59013A>T , LRG_688:g.59013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2456A>T	ENSP00000314488.4:p.Gln819Leu
ENST00000409623.8:c.2411A>T	ENSP00000386966.4:p.Gln804Leu
ENST00000452276.6:c.2339A>T	ENSP00000388671.2:p.Gln780Leu
ENST00000453906.6:c.1574A>T	ENSP00000403035.2:p.Gln525Leu
ENST00000518896.2:c.747A>T	ENSP00000507992.1:n.747A>T
ENST00000520680.2:c.2579A>T	ENSP00000428785.2:p.Gln860Leu
ENST00000521517.6:c.2357A>T	ENSP00000430740.2:p.Gln786Leu
ENST00000681998.1:c.2277A>T	ENSP00000506773.1:n.2277A>T
ENST00000682036.1:c.1697A>T	ENSP00000508390.1:p.Gln566Leu
ENST00000682577.1:c.2229A>T	ENSP00000506963.1:n.2229A>T
ENST00000682624.1:c.*2030A>T	ENSP00000508343.1:n.*2030A>T
ENST00000682700.1:c.2456A>T	ENSP00000507627.1:p.Gln819Leu
ENST00000682744.1:n.1994A>T
ENST00000682804.1:n.2279A>T
ENST00000682837.1:c.1945A>T	ENSP00000507920.1:n.1945A>T
ENST00000682935.1:n.4506A>T
ENST00000682984.1:c.2117A>T	ENSP00000507209.1:p.Gln706Leu
ENST00000683078.1:c.2211A>T	ENSP00000506796.1:n.2211A>T
ENST00000683223.1:c.2188A>T	ENSP00000507685.1:n.2188A>T
ENST00000683238.1:n.3680A>T
ENST00000683249.1:n.4053A>T
ENST00000683336.1:c.2277A>T	ENSP00000507695.1:n.2277A>T
ENST00000683362.1:c.2117A>T	ENSP00000506985.1:p.Gln706Leu
ENST00000683850.1:n.2379A>T
ENST00000683919.1:c.2386A>T	ENSP00000507617.1:n.2386A>T
ENST00000683953.1:c.2367A>T	ENSP00000508375.1:n.2367A>T
ENST00000684023.1:c.2433A>T	ENSP00000507461.1:n.2433A>T
ENST00000684064.1:c.2147A>T	ENSP00000508192.1:p.Gln716Leu
ENST00000684089.1:n.4006A>T
ENST00000684149.1:c.*1635A>T	ENSP00000507943.1:n.*1635A>T
ENST00000684343.1:c.653A>T	ENSP00000507591.1:p.Gln218Leu
ENST00000684416.1:n.2415A>T
ENST00000684540.1:c.2386A>T	ENSP00000507987.1:n.2386A>T
ENST00000453321.8:c.2456A>T MANE Select	ENSP00000389998.3:p.Gln819Leu
ENST00000323130.7:c.2426A>T	ENSP00000314488.3:p.Gln809Leu
ENST00000409623.7:c.2213A>T	ENSP00000386966.3:p.Gln738Leu
ENST00000453321.7:c.2456A>T	ENSP00000389998.3:p.Gln819Leu
ENST00000474944.5:n.1594A>T
ENST00000519845.5:n.1188A>T
NM_001142301.1:c.2213A>T , LRG_688t2:c.2213A>T	NP_001135773.1:p.Gln738Leu
NM_153704.5:c.2456A>T , LRG_688t1:c.2456A>T	NP_714915.3:p.Gln819Leu
NR_024522.1:n.2527A>T
XM_006716686.2:c.2153A>T	XP_006716749.1:p.Gln718Leu
XM_006716687.2:c.1856A>T	XP_006716750.1:p.Gln619Leu
XM_011517363.1:c.1574A>T	XP_011515665.1:p.Gln525Leu
XR_428387.1:n.2514A>T
XR_928360.1:n.2514A>T
XR_928361.1:n.2514A>T
XR_928362.1:n.2514A>T
XM_006716686.4:c.2153A>T	XP_006716749.1:p.Gln718Leu
XM_011517363.3:c.1574A>T	XP_011515665.1:p.Gln525Leu
XM_024447326.1:c.1802A>T	XP_024303094.1:p.Gln601Leu
XR_001745619.2:n.2497A>T
XR_428387.2:n.2497A>T
XR_928360.3:n.2497A>T
XR_928362.3:n.2497A>T
NM_153704.6:c.2456A>T MANE Select	NP_714915.3:p.Gln819Leu
NR_024522.2:n.2477A>T