Canonical Allele Identifier: CA2687920747

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2924376
• ClinVar RCV Id: RCV003786126
• gnomAD v4: 8-93786356-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786356T>C , CM000670.2:g.93786356T>C	GRCh38
NC_000008.10:g.94798584T>C , CM000670.1:g.94798584T>C	GRCh37
NC_000008.9:g.94867760T>C	NCBI36
NG_009190.1:g.36513T>C , LRG_688:g.36513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1412+10T>C	ENSP00000314488.4:n.1412+10T>C
ENST00000409623.8:c.1367+10T>C	ENSP00000386966.4:n.1367+10T>C
ENST00000452276.6:c.1412+10T>C	ENSP00000388671.2:n.1412+10T>C
ENST00000453906.6:c.530+10T>C	ENSP00000403035.2:n.530+10T>C
ENST00000520680.2:c.1412+10T>C	ENSP00000428785.2:n.1412+10T>C
ENST00000521517.6:c.1412+10T>C	ENSP00000430740.2:n.1412+10T>C
ENST00000681998.1:c.1233+10T>C	ENSP00000506773.1:n.1233+10T>C
ENST00000682036.1:c.530+10T>C	ENSP00000508390.1:n.530+10T>C
ENST00000682577.1:c.1185+10T>C	ENSP00000506963.1:n.1185+10T>C
ENST00000682624.1:c.*986+10T>C	ENSP00000508343.1:n.*986+10T>C
ENST00000682700.1:c.1412+10T>C	ENSP00000507627.1:n.1412+10T>C
ENST00000682744.1:n.950+10T>C
ENST00000682804.1:n.1235+10T>C
ENST00000682837.1:c.901+10T>C	ENSP00000507920.1:n.901+10T>C
ENST00000682935.1:n.3462+10T>C
ENST00000682984.1:c.1073+10T>C	ENSP00000507209.1:n.1073+10T>C
ENST00000683078.1:c.1167+10T>C	ENSP00000506796.1:n.1167+10T>C
ENST00000683223.1:c.1144+10T>C	ENSP00000507685.1:n.1144+10T>C
ENST00000683238.1:n.2636+10T>C
ENST00000683249.1:n.3009+10T>C
ENST00000683336.1:c.1233+10T>C	ENSP00000507695.1:n.1233+10T>C
ENST00000683362.1:c.1073+10T>C	ENSP00000506985.1:n.1073+10T>C
ENST00000683850.1:n.1335+10T>C
ENST00000683919.1:c.1342+10T>C	ENSP00000507617.1:n.1342+10T>C
ENST00000683953.1:c.1323+10T>C	ENSP00000508375.1:n.1323+10T>C
ENST00000684023.1:c.1389+10T>C	ENSP00000507461.1:n.1389+10T>C
ENST00000684064.1:c.1103+10T>C	ENSP00000508192.1:n.1103+10T>C
ENST00000684089.1:n.2962+10T>C
ENST00000684149.1:c.*591+10T>C	ENSP00000507943.1:n.*591+10T>C
ENST00000684416.1:n.1371+10T>C
ENST00000684540.1:c.1342+10T>C	ENSP00000507987.1:n.1342+10T>C
ENST00000453321.8:c.1412+10T>C MANE Select	ENSP00000389998.3:n.1412+10T>C
ENST00000323130.7:c.1382+10T>C	ENSP00000314488.3:n.1382+10T>C
ENST00000409623.7:c.1169+10T>C	ENSP00000386966.3:n.1169+10T>C
ENST00000452276.5:c.1103+10T>C	ENSP00000388671.1:n.1103+10T>C
ENST00000453321.7:c.1412+10T>C	ENSP00000389998.3:n.1412+10T>C
ENST00000453906.5:c.530+10T>C	ENSP00000403035.1:n.530+10T>C
ENST00000474944.5:n.550+10T>C
ENST00000520680.1:c.234+10T>C
NM_001142301.1:c.1169+10T>C , LRG_688t2:c.1169+10T>C	NP_001135773.1:n.1169+10T>C
NM_153704.5:c.1412+10T>C , LRG_688t1:c.1412+10T>C	NP_714915.3:n.1412+10T>C
NR_024522.1:n.1483+10T>C
XM_006716686.2:c.1109+10T>C	XP_006716749.1:n.1109+10T>C
XM_006716687.2:c.812+10T>C	XP_006716750.1:n.812+10T>C
XM_011517363.1:c.530+10T>C	XP_011515665.1:n.530+10T>C
XR_428387.1:n.1470+10T>C
XR_928360.1:n.1470+10T>C
XR_928361.1:n.1470+10T>C
XR_928362.1:n.1470+10T>C
XM_006716686.4:c.1109+10T>C	XP_006716749.1:n.1109+10T>C
XM_011517363.3:c.530+10T>C	XP_011515665.1:n.530+10T>C
XM_024447326.1:c.758+10T>C	XP_024303094.1:n.758+10T>C
XR_001745619.2:n.1453+10T>C
XR_428387.2:n.1453+10T>C
XR_928360.3:n.1453+10T>C
XR_928362.3:n.1453+10T>C
NM_153704.6:c.1412+10T>C MANE Select	NP_714915.3:n.1412+10T>C
NR_024522.2:n.1433+10T>C