Canonical Allele Identifier: CA371699022

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821125A>C (hg19) ; chr8:g.93808897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808897A>C , CM000670.2:g.93808897A>C	GRCh38
NC_000008.10:g.94821125A>C , CM000670.1:g.94821125A>C	GRCh37
NC_000008.9:g.94890301A>C	NCBI36
NG_009190.1:g.59054A>C , LRG_688:g.59054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2497A>C	ENSP00000314488.4:p.Ile833Leu
ENST00000409623.8:c.2452A>C	ENSP00000386966.4:p.Ile818Leu
ENST00000452276.6:c.2380A>C	ENSP00000388671.2:p.Ile794Leu
ENST00000453906.6:c.1615A>C	ENSP00000403035.2:p.Ile539Leu
ENST00000518896.2:c.788A>C	ENSP00000507992.1:n.788A>C
ENST00000520680.2:c.2620A>C	ENSP00000428785.2:p.Ile874Leu
ENST00000521517.6:c.2398A>C	ENSP00000430740.2:p.Ile800Leu
ENST00000681998.1:c.2318A>C	ENSP00000506773.1:n.2318A>C
ENST00000682036.1:c.1738A>C	ENSP00000508390.1:p.Ile580Leu
ENST00000682577.1:c.2270A>C	ENSP00000506963.1:n.2270A>C
ENST00000682624.1:c.*2071A>C	ENSP00000508343.1:n.*2071A>C
ENST00000682700.1:c.2497A>C	ENSP00000507627.1:p.Ile833Leu
ENST00000682744.1:n.2035A>C
ENST00000682804.1:n.2320A>C
ENST00000682837.1:c.1986A>C	ENSP00000507920.1:n.1986A>C
ENST00000682935.1:n.4547A>C
ENST00000682984.1:c.2158A>C	ENSP00000507209.1:p.Ile720Leu
ENST00000683078.1:c.2252A>C	ENSP00000506796.1:n.2252A>C
ENST00000683223.1:c.2229A>C	ENSP00000507685.1:n.2229A>C
ENST00000683238.1:n.3721A>C
ENST00000683249.1:n.4094A>C
ENST00000683336.1:c.2318A>C	ENSP00000507695.1:n.2318A>C
ENST00000683362.1:c.2158A>C	ENSP00000506985.1:p.Ile720Leu
ENST00000683850.1:n.2420A>C
ENST00000683919.1:c.2427A>C	ENSP00000507617.1:n.2427A>C
ENST00000683953.1:c.2408A>C	ENSP00000508375.1:n.2408A>C
ENST00000684023.1:c.2474A>C	ENSP00000507461.1:n.2474A>C
ENST00000684064.1:c.2188A>C	ENSP00000508192.1:p.Ile730Leu
ENST00000684089.1:n.4047A>C
ENST00000684149.1:c.*1676A>C	ENSP00000507943.1:n.*1676A>C
ENST00000684343.1:c.694A>C	ENSP00000507591.1:p.Ile232Leu
ENST00000684416.1:n.2456A>C
ENST00000684540.1:c.2427A>C	ENSP00000507987.1:n.2427A>C
ENST00000453321.8:c.2497A>C MANE Select	ENSP00000389998.3:p.Ile833Leu
ENST00000323130.7:c.2467A>C	ENSP00000314488.3:p.Ile823Leu
ENST00000409623.7:c.2254A>C	ENSP00000386966.3:p.Ile752Leu
ENST00000453321.7:c.2497A>C	ENSP00000389998.3:p.Ile833Leu
ENST00000474944.5:n.1635A>C
ENST00000519845.5:n.1229A>C
NM_001142301.1:c.2254A>C , LRG_688t2:c.2254A>C	NP_001135773.1:p.Ile752Leu
NM_153704.5:c.2497A>C , LRG_688t1:c.2497A>C	NP_714915.3:p.Ile833Leu
NR_024522.1:n.2568A>C
XM_006716686.2:c.2194A>C	XP_006716749.1:p.Ile732Leu
XM_006716687.2:c.1897A>C	XP_006716750.1:p.Ile633Leu
XM_011517363.1:c.1615A>C	XP_011515665.1:p.Ile539Leu
XR_428387.1:n.2555A>C
XR_928360.1:n.2555A>C
XR_928361.1:n.2555A>C
XR_928362.1:n.2555A>C
XM_006716686.4:c.2194A>C	XP_006716749.1:p.Ile732Leu
XM_011517363.3:c.1615A>C	XP_011515665.1:p.Ile539Leu
XM_024447326.1:c.1843A>C	XP_024303094.1:p.Ile615Leu
XR_001745619.2:n.2538A>C
XR_428387.2:n.2538A>C
XR_928360.3:n.2538A>C
XR_928362.3:n.2538A>C
NM_153704.6:c.2497A>C MANE Select	NP_714915.3:p.Ile833Leu
NR_024522.2:n.2518A>C