Canonical Allele Identifier: CA371698998

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821115G>C (hg19) ; chr8:g.93808887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808887G>C , CM000670.2:g.93808887G>C	GRCh38
NC_000008.10:g.94821115G>C , CM000670.1:g.94821115G>C	GRCh37
NC_000008.9:g.94890291G>C	NCBI36
NG_009190.1:g.59044G>C , LRG_688:g.59044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2487G>C	ENSP00000314488.4:p.Gln829His
ENST00000409623.8:c.2442G>C	ENSP00000386966.4:p.Gln814His
ENST00000452276.6:c.2370G>C	ENSP00000388671.2:p.Gln790His
ENST00000453906.6:c.1605G>C	ENSP00000403035.2:p.Gln535His
ENST00000518896.2:c.778G>C	ENSP00000507992.1:n.778G>C
ENST00000520680.2:c.2610G>C	ENSP00000428785.2:p.Gln870His
ENST00000521517.6:c.2388G>C	ENSP00000430740.2:p.Gln796His
ENST00000681998.1:c.2308G>C	ENSP00000506773.1:n.2308G>C
ENST00000682036.1:c.1728G>C	ENSP00000508390.1:p.Gln576His
ENST00000682577.1:c.2260G>C	ENSP00000506963.1:n.2260G>C
ENST00000682624.1:c.*2061G>C	ENSP00000508343.1:n.*2061G>C
ENST00000682700.1:c.2487G>C	ENSP00000507627.1:p.Gln829His
ENST00000682744.1:n.2025G>C
ENST00000682804.1:n.2310G>C
ENST00000682837.1:c.1976G>C	ENSP00000507920.1:n.1976G>C
ENST00000682935.1:n.4537G>C
ENST00000682984.1:c.2148G>C	ENSP00000507209.1:p.Gln716His
ENST00000683078.1:c.2242G>C	ENSP00000506796.1:n.2242G>C
ENST00000683223.1:c.2219G>C	ENSP00000507685.1:n.2219G>C
ENST00000683238.1:n.3711G>C
ENST00000683249.1:n.4084G>C
ENST00000683336.1:c.2308G>C	ENSP00000507695.1:n.2308G>C
ENST00000683362.1:c.2148G>C	ENSP00000506985.1:p.Gln716His
ENST00000683850.1:n.2410G>C
ENST00000683919.1:c.2417G>C	ENSP00000507617.1:n.2417G>C
ENST00000683953.1:c.2398G>C	ENSP00000508375.1:n.2398G>C
ENST00000684023.1:c.2464G>C	ENSP00000507461.1:n.2464G>C
ENST00000684064.1:c.2178G>C	ENSP00000508192.1:p.Gln726His
ENST00000684089.1:n.4037G>C
ENST00000684149.1:c.*1666G>C	ENSP00000507943.1:n.*1666G>C
ENST00000684343.1:c.684G>C	ENSP00000507591.1:p.Gln228His
ENST00000684416.1:n.2446G>C
ENST00000684540.1:c.2417G>C	ENSP00000507987.1:n.2417G>C
ENST00000453321.8:c.2487G>C MANE Select	ENSP00000389998.3:p.Gln829His
ENST00000323130.7:c.2457G>C	ENSP00000314488.3:p.Gln819His
ENST00000409623.7:c.2244G>C	ENSP00000386966.3:p.Gln748His
ENST00000453321.7:c.2487G>C	ENSP00000389998.3:p.Gln829His
ENST00000474944.5:n.1625G>C
ENST00000519845.5:n.1219G>C
NM_001142301.1:c.2244G>C , LRG_688t2:c.2244G>C	NP_001135773.1:p.Gln748His
NM_153704.5:c.2487G>C , LRG_688t1:c.2487G>C	NP_714915.3:p.Gln829His
NR_024522.1:n.2558G>C
XM_006716686.2:c.2184G>C	XP_006716749.1:p.Gln728His
XM_006716687.2:c.1887G>C	XP_006716750.1:p.Gln629His
XM_011517363.1:c.1605G>C	XP_011515665.1:p.Gln535His
XR_428387.1:n.2545G>C
XR_928360.1:n.2545G>C
XR_928361.1:n.2545G>C
XR_928362.1:n.2545G>C
XM_006716686.4:c.2184G>C	XP_006716749.1:p.Gln728His
XM_011517363.3:c.1605G>C	XP_011515665.1:p.Gln535His
XM_024447326.1:c.1833G>C	XP_024303094.1:p.Gln611His
XR_001745619.2:n.2528G>C
XR_428387.2:n.2528G>C
XR_928360.3:n.2528G>C
XR_928362.3:n.2528G>C
NM_153704.6:c.2487G>C MANE Select	NP_714915.3:p.Gln829His
NR_024522.2:n.2508G>C