Canonical Allele Identifier: CA371699002

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821116A>T (hg19) ; chr8:g.93808888A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808888A>T , CM000670.2:g.93808888A>T	GRCh38
NC_000008.10:g.94821116A>T , CM000670.1:g.94821116A>T	GRCh37
NC_000008.9:g.94890292A>T	NCBI36
NG_009190.1:g.59045A>T , LRG_688:g.59045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2488A>T	ENSP00000314488.4:p.Thr830Ser
ENST00000409623.8:c.2443A>T	ENSP00000386966.4:p.Thr815Ser
ENST00000452276.6:c.2371A>T	ENSP00000388671.2:p.Thr791Ser
ENST00000453906.6:c.1606A>T	ENSP00000403035.2:p.Thr536Ser
ENST00000518896.2:c.779A>T	ENSP00000507992.1:n.779A>T
ENST00000520680.2:c.2611A>T	ENSP00000428785.2:p.Thr871Ser
ENST00000521517.6:c.2389A>T	ENSP00000430740.2:p.Thr797Ser
ENST00000681998.1:c.2309A>T	ENSP00000506773.1:n.2309A>T
ENST00000682036.1:c.1729A>T	ENSP00000508390.1:p.Thr577Ser
ENST00000682577.1:c.2261A>T	ENSP00000506963.1:n.2261A>T
ENST00000682624.1:c.*2062A>T	ENSP00000508343.1:n.*2062A>T
ENST00000682700.1:c.2488A>T	ENSP00000507627.1:p.Thr830Ser
ENST00000682744.1:n.2026A>T
ENST00000682804.1:n.2311A>T
ENST00000682837.1:c.1977A>T	ENSP00000507920.1:n.1977A>T
ENST00000682935.1:n.4538A>T
ENST00000682984.1:c.2149A>T	ENSP00000507209.1:p.Thr717Ser
ENST00000683078.1:c.2243A>T	ENSP00000506796.1:n.2243A>T
ENST00000683223.1:c.2220A>T	ENSP00000507685.1:n.2220A>T
ENST00000683238.1:n.3712A>T
ENST00000683249.1:n.4085A>T
ENST00000683336.1:c.2309A>T	ENSP00000507695.1:n.2309A>T
ENST00000683362.1:c.2149A>T	ENSP00000506985.1:p.Thr717Ser
ENST00000683850.1:n.2411A>T
ENST00000683919.1:c.2418A>T	ENSP00000507617.1:n.2418A>T
ENST00000683953.1:c.2399A>T	ENSP00000508375.1:n.2399A>T
ENST00000684023.1:c.2465A>T	ENSP00000507461.1:n.2465A>T
ENST00000684064.1:c.2179A>T	ENSP00000508192.1:p.Thr727Ser
ENST00000684089.1:n.4038A>T
ENST00000684149.1:c.*1667A>T	ENSP00000507943.1:n.*1667A>T
ENST00000684343.1:c.685A>T	ENSP00000507591.1:p.Thr229Ser
ENST00000684416.1:n.2447A>T
ENST00000684540.1:c.2418A>T	ENSP00000507987.1:n.2418A>T
ENST00000453321.8:c.2488A>T MANE Select	ENSP00000389998.3:p.Thr830Ser
ENST00000323130.7:c.2458A>T	ENSP00000314488.3:p.Thr820Ser
ENST00000409623.7:c.2245A>T	ENSP00000386966.3:p.Thr749Ser
ENST00000453321.7:c.2488A>T	ENSP00000389998.3:p.Thr830Ser
ENST00000474944.5:n.1626A>T
ENST00000519845.5:n.1220A>T
NM_001142301.1:c.2245A>T , LRG_688t2:c.2245A>T	NP_001135773.1:p.Thr749Ser
NM_153704.5:c.2488A>T , LRG_688t1:c.2488A>T	NP_714915.3:p.Thr830Ser
NR_024522.1:n.2559A>T
XM_006716686.2:c.2185A>T	XP_006716749.1:p.Thr729Ser
XM_006716687.2:c.1888A>T	XP_006716750.1:p.Thr630Ser
XM_011517363.1:c.1606A>T	XP_011515665.1:p.Thr536Ser
XR_428387.1:n.2546A>T
XR_928360.1:n.2546A>T
XR_928361.1:n.2546A>T
XR_928362.1:n.2546A>T
XM_006716686.4:c.2185A>T	XP_006716749.1:p.Thr729Ser
XM_011517363.3:c.1606A>T	XP_011515665.1:p.Thr536Ser
XM_024447326.1:c.1834A>T	XP_024303094.1:p.Thr612Ser
XR_001745619.2:n.2529A>T
XR_428387.2:n.2529A>T
XR_928360.3:n.2529A>T
XR_928362.3:n.2529A>T
NM_153704.6:c.2488A>T MANE Select	NP_714915.3:p.Thr830Ser
NR_024522.2:n.2509A>T