Canonical Allele Identifier: CA371699142

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821179A>G (hg19) ; chr8:g.93808951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808951A>G , CM000670.2:g.93808951A>G	GRCh38
NC_000008.10:g.94821179A>G , CM000670.1:g.94821179A>G	GRCh37
NC_000008.9:g.94890355A>G	NCBI36
NG_009190.1:g.59108A>G , LRG_688:g.59108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2551A>G	ENSP00000314488.4:p.Ile851Val
ENST00000409623.8:c.2506A>G	ENSP00000386966.4:p.Ile836Val
ENST00000452276.6:c.2434A>G	ENSP00000388671.2:p.Ile812Val
ENST00000453906.6:c.1669A>G	ENSP00000403035.2:p.Ile557Val
ENST00000518896.2:c.842A>G	ENSP00000507992.1:n.842A>G
ENST00000520680.2:c.2674A>G	ENSP00000428785.2:p.Ile892Val
ENST00000521517.6:c.2452A>G	ENSP00000430740.2:p.Ile818Val
ENST00000681998.1:c.2372A>G	ENSP00000506773.1:n.2372A>G
ENST00000682036.1:c.1792A>G	ENSP00000508390.1:p.Ile598Val
ENST00000682577.1:c.2324A>G	ENSP00000506963.1:n.2324A>G
ENST00000682624.1:c.*2125A>G	ENSP00000508343.1:n.*2125A>G
ENST00000682700.1:c.2551A>G	ENSP00000507627.1:p.Ile851Val
ENST00000682744.1:n.2089A>G
ENST00000682804.1:n.2374A>G
ENST00000682837.1:c.2040A>G	ENSP00000507920.1:n.2040A>G
ENST00000682935.1:n.4601A>G
ENST00000682984.1:c.2212A>G	ENSP00000507209.1:p.Ile738Val
ENST00000683078.1:c.2306A>G	ENSP00000506796.1:n.2306A>G
ENST00000683223.1:c.2283A>G	ENSP00000507685.1:n.2283A>G
ENST00000683238.1:n.3775A>G
ENST00000683249.1:n.4148A>G
ENST00000683336.1:c.2372A>G	ENSP00000507695.1:n.2372A>G
ENST00000683362.1:c.2212A>G	ENSP00000506985.1:p.Ile738Val
ENST00000683850.1:n.2474A>G
ENST00000683919.1:c.2481A>G	ENSP00000507617.1:n.2481A>G
ENST00000683953.1:c.2462A>G	ENSP00000508375.1:n.2462A>G
ENST00000684023.1:c.2528A>G	ENSP00000507461.1:n.2528A>G
ENST00000684064.1:c.2242A>G	ENSP00000508192.1:p.Ile748Val
ENST00000684089.1:n.4101A>G
ENST00000684149.1:c.*1730A>G	ENSP00000507943.1:n.*1730A>G
ENST00000684343.1:c.748A>G	ENSP00000507591.1:p.Ile250Val
ENST00000684416.1:n.2510A>G
ENST00000684540.1:c.2481A>G	ENSP00000507987.1:n.2481A>G
ENST00000453321.8:c.2551A>G MANE Select	ENSP00000389998.3:p.Ile851Val
ENST00000323130.7:c.2521A>G	ENSP00000314488.3:p.Ile841Val
ENST00000409623.7:c.2308A>G	ENSP00000386966.3:p.Ile770Val
ENST00000453321.7:c.2551A>G	ENSP00000389998.3:p.Ile851Val
ENST00000474944.5:n.1689A>G
ENST00000519845.5:n.1283A>G
NM_001142301.1:c.2308A>G , LRG_688t2:c.2308A>G	NP_001135773.1:p.Ile770Val
NM_153704.5:c.2551A>G , LRG_688t1:c.2551A>G	NP_714915.3:p.Ile851Val
NR_024522.1:n.2622A>G
XM_006716686.2:c.2248A>G	XP_006716749.1:p.Ile750Val
XM_006716687.2:c.1951A>G	XP_006716750.1:p.Ile651Val
XM_011517363.1:c.1669A>G	XP_011515665.1:p.Ile557Val
XR_428387.1:n.2609A>G
XR_928360.1:n.2609A>G
XR_928361.1:n.2609A>G
XR_928362.1:n.2609A>G
XM_006716686.4:c.2248A>G	XP_006716749.1:p.Ile750Val
XM_011517363.3:c.1669A>G	XP_011515665.1:p.Ile557Val
XM_024447326.1:c.1897A>G	XP_024303094.1:p.Ile633Val
XR_001745619.2:n.2592A>G
XR_428387.2:n.2592A>G
XR_928360.3:n.2592A>G
XR_928362.3:n.2592A>G
NM_153704.6:c.2551A>G MANE Select	NP_714915.3:p.Ile851Val
NR_024522.2:n.2572A>G