Canonical Allele Identifier: CA4808318

Gene: TMEM67

Linked Data

• dbSNP Id: rs750143501
• ExAC: 8:94821116 A / G
• gnomAD v2: 8-94821116-A-G
• gnomAD v3: 8-93808888-A-G
• gnomAD v4: 8-93808888-A-G
• COSMIC: COSM4734597 ; COSM4734598 ; COSM4734599
• MyVariant Identifiers: chr8:g.94821116A>G (hg19) ; chr8:g.93808888A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2488A>G	ENSP00000314488.4:p.Thr830Ala
ENST00000409623.8:c.2443A>G	ENSP00000386966.4:p.Thr815Ala
ENST00000452276.6:c.2371A>G	ENSP00000388671.2:p.Thr791Ala
ENST00000453906.6:c.1606A>G	ENSP00000403035.2:p.Thr536Ala
ENST00000518896.2:c.779A>G	ENSP00000507992.1:n.779A>G
ENST00000520680.2:c.2611A>G	ENSP00000428785.2:p.Thr871Ala
ENST00000521517.6:c.2389A>G	ENSP00000430740.2:p.Thr797Ala
ENST00000681998.1:c.2309A>G	ENSP00000506773.1:n.2309A>G
ENST00000682036.1:c.1729A>G	ENSP00000508390.1:p.Thr577Ala
ENST00000682577.1:c.2261A>G	ENSP00000506963.1:n.2261A>G
ENST00000682624.1:c.*2062A>G	ENSP00000508343.1:n.*2062A>G
ENST00000682700.1:c.2488A>G	ENSP00000507627.1:p.Thr830Ala
ENST00000682744.1:n.2026A>G
ENST00000682804.1:n.2311A>G
ENST00000682837.1:c.1977A>G	ENSP00000507920.1:n.1977A>G
ENST00000682935.1:n.4538A>G
ENST00000682984.1:c.2149A>G	ENSP00000507209.1:p.Thr717Ala
ENST00000683078.1:c.2243A>G	ENSP00000506796.1:n.2243A>G
ENST00000683223.1:c.2220A>G	ENSP00000507685.1:n.2220A>G
ENST00000683238.1:n.3712A>G
ENST00000683249.1:n.4085A>G
ENST00000683336.1:c.2309A>G	ENSP00000507695.1:n.2309A>G
ENST00000683362.1:c.2149A>G	ENSP00000506985.1:p.Thr717Ala
ENST00000683850.1:n.2411A>G
ENST00000683919.1:c.2418A>G	ENSP00000507617.1:n.2418A>G
ENST00000683953.1:c.2399A>G	ENSP00000508375.1:n.2399A>G
ENST00000684023.1:c.2465A>G	ENSP00000507461.1:n.2465A>G
ENST00000684064.1:c.2179A>G	ENSP00000508192.1:p.Thr727Ala
ENST00000684089.1:n.4038A>G
ENST00000684149.1:c.*1667A>G	ENSP00000507943.1:n.*1667A>G
ENST00000684343.1:c.685A>G	ENSP00000507591.1:p.Thr229Ala
ENST00000684416.1:n.2447A>G
ENST00000684540.1:c.2418A>G	ENSP00000507987.1:n.2418A>G
ENST00000453321.8:c.2488A>G MANE Select	ENSP00000389998.3:p.Thr830Ala
ENST00000323130.7:c.2458A>G	ENSP00000314488.3:p.Thr820Ala
ENST00000409623.7:c.2245A>G	ENSP00000386966.3:p.Thr749Ala
ENST00000453321.7:c.2488A>G	ENSP00000389998.3:p.Thr830Ala
ENST00000474944.5:n.1626A>G
ENST00000519845.5:n.1220A>G
NM_001142301.1:c.2245A>G , LRG_688t2:c.2245A>G	NP_001135773.1:p.Thr749Ala
NM_153704.5:c.2488A>G , LRG_688t1:c.2488A>G	NP_714915.3:p.Thr830Ala
NR_024522.1:n.2559A>G
XM_006716686.2:c.2185A>G	XP_006716749.1:p.Thr729Ala
XM_006716687.2:c.1888A>G	XP_006716750.1:p.Thr630Ala
XM_011517363.1:c.1606A>G	XP_011515665.1:p.Thr536Ala
XR_428387.1:n.2546A>G
XR_928360.1:n.2546A>G
XR_928361.1:n.2546A>G
XR_928362.1:n.2546A>G
XM_006716686.4:c.2185A>G	XP_006716749.1:p.Thr729Ala
XM_011517363.3:c.1606A>G	XP_011515665.1:p.Thr536Ala
XM_024447326.1:c.1834A>G	XP_024303094.1:p.Thr612Ala
XR_001745619.2:n.2529A>G
XR_428387.2:n.2529A>G
XR_928360.3:n.2529A>G
XR_928362.3:n.2529A>G
NM_153704.6:c.2488A>G MANE Select	NP_714915.3:p.Thr830Ala
NR_024522.2:n.2509A>G