Canonical Allele Identifier: CA371699091

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821156A>T (hg19) ; chr8:g.93808928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808928A>T , CM000670.2:g.93808928A>T	GRCh38
NC_000008.10:g.94821156A>T , CM000670.1:g.94821156A>T	GRCh37
NC_000008.9:g.94890332A>T	NCBI36
NG_009190.1:g.59085A>T , LRG_688:g.59085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2528A>T	ENSP00000314488.4:p.Tyr843Phe
ENST00000409623.8:c.2483A>T	ENSP00000386966.4:p.Tyr828Phe
ENST00000452276.6:c.2411A>T	ENSP00000388671.2:p.Tyr804Phe
ENST00000453906.6:c.1646A>T	ENSP00000403035.2:p.Tyr549Phe
ENST00000518896.2:c.819A>T	ENSP00000507992.1:n.819A>T
ENST00000520680.2:c.2651A>T	ENSP00000428785.2:p.Tyr884Phe
ENST00000521517.6:c.2429A>T	ENSP00000430740.2:p.Tyr810Phe
ENST00000681998.1:c.2349A>T	ENSP00000506773.1:n.2349A>T
ENST00000682036.1:c.1769A>T	ENSP00000508390.1:p.Tyr590Phe
ENST00000682577.1:c.2301A>T	ENSP00000506963.1:n.2301A>T
ENST00000682624.1:c.*2102A>T	ENSP00000508343.1:n.*2102A>T
ENST00000682700.1:c.2528A>T	ENSP00000507627.1:p.Tyr843Phe
ENST00000682744.1:n.2066A>T
ENST00000682804.1:n.2351A>T
ENST00000682837.1:c.2017A>T	ENSP00000507920.1:n.2017A>T
ENST00000682935.1:n.4578A>T
ENST00000682984.1:c.2189A>T	ENSP00000507209.1:p.Tyr730Phe
ENST00000683078.1:c.2283A>T	ENSP00000506796.1:n.2283A>T
ENST00000683223.1:c.2260A>T	ENSP00000507685.1:n.2260A>T
ENST00000683238.1:n.3752A>T
ENST00000683249.1:n.4125A>T
ENST00000683336.1:c.2349A>T	ENSP00000507695.1:n.2349A>T
ENST00000683362.1:c.2189A>T	ENSP00000506985.1:p.Tyr730Phe
ENST00000683850.1:n.2451A>T
ENST00000683919.1:c.2458A>T	ENSP00000507617.1:n.2458A>T
ENST00000683953.1:c.2439A>T	ENSP00000508375.1:n.2439A>T
ENST00000684023.1:c.2505A>T	ENSP00000507461.1:n.2505A>T
ENST00000684064.1:c.2219A>T	ENSP00000508192.1:p.Tyr740Phe
ENST00000684089.1:n.4078A>T
ENST00000684149.1:c.*1707A>T	ENSP00000507943.1:n.*1707A>T
ENST00000684343.1:c.725A>T	ENSP00000507591.1:p.Tyr242Phe
ENST00000684416.1:n.2487A>T
ENST00000684540.1:c.2458A>T	ENSP00000507987.1:n.2458A>T
ENST00000453321.8:c.2528A>T MANE Select	ENSP00000389998.3:p.Tyr843Phe
ENST00000323130.7:c.2498A>T	ENSP00000314488.3:p.Tyr833Phe
ENST00000409623.7:c.2285A>T	ENSP00000386966.3:p.Tyr762Phe
ENST00000453321.7:c.2528A>T	ENSP00000389998.3:p.Tyr843Phe
ENST00000474944.5:n.1666A>T
ENST00000519845.5:n.1260A>T
NM_001142301.1:c.2285A>T , LRG_688t2:c.2285A>T	NP_001135773.1:p.Tyr762Phe
NM_153704.5:c.2528A>T , LRG_688t1:c.2528A>T	NP_714915.3:p.Tyr843Phe
NR_024522.1:n.2599A>T
XM_006716686.2:c.2225A>T	XP_006716749.1:p.Tyr742Phe
XM_006716687.2:c.1928A>T	XP_006716750.1:p.Tyr643Phe
XM_011517363.1:c.1646A>T	XP_011515665.1:p.Tyr549Phe
XR_428387.1:n.2586A>T
XR_928360.1:n.2586A>T
XR_928361.1:n.2586A>T
XR_928362.1:n.2586A>T
XM_006716686.4:c.2225A>T	XP_006716749.1:p.Tyr742Phe
XM_011517363.3:c.1646A>T	XP_011515665.1:p.Tyr549Phe
XM_024447326.1:c.1874A>T	XP_024303094.1:p.Tyr625Phe
XR_001745619.2:n.2569A>T
XR_428387.2:n.2569A>T
XR_928360.3:n.2569A>T
XR_928362.3:n.2569A>T
NM_153704.6:c.2528A>T MANE Select	NP_714915.3:p.Tyr843Phe
NR_024522.2:n.2549A>T