Canonical Allele Identifier: CA1116700576

Gene: TMEM67

Linked Data

• dbSNP Id: rs1813803147
• gnomAD v3: 8-93781062-C-T
• gnomAD v4: 8-93781062-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93781062C>T , CM000670.2:g.93781062C>T	GRCh38
NC_000008.10:g.94793290C>T , CM000670.1:g.94793290C>T	GRCh37
NC_000008.9:g.94862466C>T	NCBI36
NG_009190.1:g.31219C>T , LRG_688:g.31219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.978+80C>T	ENSP00000314488.4:n.978+80C>T
ENST00000409623.8:c.978+80C>T	ENSP00000386966.4:n.978+80C>T
ENST00000452276.6:c.978+80C>T	ENSP00000388671.2:n.978+80C>T
ENST00000453906.6:c.407-5161C>T	ENSP00000403035.2:n.407-5161C>T
ENST00000520680.2:c.978+80C>T	ENSP00000428785.2:n.978+80C>T
ENST00000521065.2:c.*695+80C>T	ENSP00000427947.2:n.*695+80C>T
ENST00000521517.6:c.978+80C>T	ENSP00000430740.2:n.978+80C>T
ENST00000681998.1:c.799+315C>T	ENSP00000506773.1:n.799+315C>T
ENST00000682036.1:c.407-5161C>T	ENSP00000508390.1:n.407-5161C>T
ENST00000682577.1:c.908+80C>T	ENSP00000506963.1:n.908+80C>T
ENST00000682624.1:c.*552+80C>T	ENSP00000508343.1:n.*552+80C>T
ENST00000682700.1:c.978+80C>T	ENSP00000507627.1:n.978+80C>T
ENST00000682744.1:n.516+80C>T
ENST00000682804.1:n.801+80C>T
ENST00000682837.1:c.624+315C>T	ENSP00000507920.1:n.624+315C>T
ENST00000682935.1:n.2538+80C>T
ENST00000682984.1:c.639+80C>T	ENSP00000507209.1:n.639+80C>T
ENST00000683078.1:c.733+80C>T	ENSP00000506796.1:n.733+80C>T
ENST00000683223.1:c.710+315C>T	ENSP00000507685.1:n.710+315C>T
ENST00000683238.1:n.2359+80C>T
ENST00000683249.1:n.2575+80C>T
ENST00000683336.1:c.799+315C>T	ENSP00000507695.1:n.799+315C>T
ENST00000683362.1:c.639+80C>T	ENSP00000506985.1:n.639+80C>T
ENST00000683850.1:n.901+80C>T
ENST00000683919.1:c.908+80C>T	ENSP00000507617.1:n.908+80C>T
ENST00000683953.1:c.889+80C>T	ENSP00000508375.1:n.889+80C>T
ENST00000684023.1:c.1112+80C>T	ENSP00000507461.1:n.1112+80C>T
ENST00000684064.1:c.669+80C>T	ENSP00000508192.1:n.669+80C>T
ENST00000684089.1:n.2528+80C>T
ENST00000684149.1:c.*314+80C>T	ENSP00000507943.1:n.*314+80C>T
ENST00000684416.1:n.937+80C>T
ENST00000684540.1:c.908+80C>T	ENSP00000507987.1:n.908+80C>T
ENST00000453321.8:c.978+80C>T MANE Select	ENSP00000389998.3:n.978+80C>T
ENST00000323130.7:c.948+80C>T	ENSP00000314488.3:n.948+80C>T
ENST00000409623.7:c.735+80C>T	ENSP00000386966.3:n.735+80C>T
ENST00000425545.2:n.425+80C>T
ENST00000452276.5:c.669+80C>T	ENSP00000388671.1:n.669+80C>T
ENST00000453321.7:c.978+80C>T	ENSP00000389998.3:n.978+80C>T
ENST00000453906.5:c.407-5161C>T	ENSP00000403035.1:n.407-5161C>T
ENST00000474944.5:n.427-5161C>T
NM_001142301.1:c.735+80C>T , LRG_688t2:c.735+80C>T	NP_001135773.1:n.735+80C>T
NM_153704.5:c.978+80C>T , LRG_688t1:c.978+80C>T	NP_714915.3:n.978+80C>T
NR_024522.1:n.1049+80C>T
XM_006716686.2:c.675+80C>T	XP_006716749.1:n.675+80C>T
XM_006716687.2:c.378+80C>T	XP_006716750.1:n.378+80C>T
XM_011517363.1:c.407-5161C>T	XP_011515665.1:n.407-5161C>T
XR_428387.1:n.1036+80C>T
XR_928360.1:n.1036+80C>T
XR_928361.1:n.1036+80C>T
XR_928362.1:n.1036+80C>T
XM_006716686.4:c.675+80C>T	XP_006716749.1:n.675+80C>T
XM_011517363.3:c.407-5161C>T	XP_011515665.1:n.407-5161C>T
XM_024447326.1:c.324+80C>T	XP_024303094.1:n.324+80C>T
XR_001745619.2:n.1019+80C>T
XR_428387.2:n.1019+80C>T
XR_928360.3:n.1019+80C>T
XR_928362.3:n.1019+80C>T
NM_153704.6:c.978+80C>T MANE Select	NP_714915.3:n.978+80C>T
NR_024522.2:n.999+80C>T