Canonical Allele Identifier: CA2687919736

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780785-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780785G>T , CM000670.2:g.93780785G>T	GRCh38
NC_000008.10:g.94793013G>T , CM000670.1:g.94793013G>T	GRCh37
NC_000008.9:g.94862189G>T	NCBI36
NG_009190.1:g.30942G>T , LRG_688:g.30942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+38G>T	ENSP00000314488.4:n.869+38G>T
ENST00000409623.8:c.869+38G>T	ENSP00000386966.4:n.869+38G>T
ENST00000452276.6:c.869+38G>T	ENSP00000388671.2:n.869+38G>T
ENST00000453906.6:c.407-5438G>T	ENSP00000403035.2:n.407-5438G>T
ENST00000520680.2:c.869+38G>T	ENSP00000428785.2:n.869+38G>T
ENST00000521065.2:c.*586+38G>T	ENSP00000427947.2:n.*586+38G>T
ENST00000521517.6:c.869+38G>T	ENSP00000430740.2:n.869+38G>T
ENST00000681998.1:c.799+38G>T	ENSP00000506773.1:n.799+38G>T
ENST00000682036.1:c.407-5438G>T	ENSP00000508390.1:n.407-5438G>T
ENST00000682577.1:c.799+38G>T	ENSP00000506963.1:n.799+38G>T
ENST00000682624.1:c.*443+38G>T	ENSP00000508343.1:n.*443+38G>T
ENST00000682700.1:c.869+38G>T	ENSP00000507627.1:n.869+38G>T
ENST00000682744.1:n.407+38G>T
ENST00000682804.1:n.692+38G>T
ENST00000682837.1:c.624+38G>T	ENSP00000507920.1:n.624+38G>T
ENST00000682935.1:n.2429+38G>T
ENST00000682984.1:c.530+38G>T	ENSP00000507209.1:n.530+38G>T
ENST00000683078.1:c.624+38G>T	ENSP00000506796.1:n.624+38G>T
ENST00000683223.1:c.710+38G>T	ENSP00000507685.1:n.710+38G>T
ENST00000683238.1:n.2250+38G>T
ENST00000683249.1:n.2450+38G>T
ENST00000683336.1:c.799+38G>T	ENSP00000507695.1:n.799+38G>T
ENST00000683362.1:c.530+38G>T	ENSP00000506985.1:n.530+38G>T
ENST00000683850.1:n.792+38G>T
ENST00000683919.1:c.799+38G>T	ENSP00000507617.1:n.799+38G>T
ENST00000683953.1:c.780+38G>T	ENSP00000508375.1:n.780+38G>T
ENST00000684023.1:c.1003+38G>T	ENSP00000507461.1:n.1003+38G>T
ENST00000684064.1:c.560+38G>T	ENSP00000508192.1:n.560+38G>T
ENST00000684089.1:n.2419+38G>T
ENST00000684149.1:c.*205+38G>T	ENSP00000507943.1:n.*205+38G>T
ENST00000684416.1:n.828+38G>T
ENST00000684540.1:c.799+38G>T	ENSP00000507987.1:n.799+38G>T
ENST00000453321.8:c.869+38G>T MANE Select	ENSP00000389998.3:n.869+38G>T
ENST00000323130.7:c.839+38G>T	ENSP00000314488.3:n.839+38G>T
ENST00000409623.7:c.626+38G>T	ENSP00000386966.3:n.626+38G>T
ENST00000425545.2:n.316+38G>T
ENST00000452276.5:c.560+38G>T	ENSP00000388671.1:n.560+38G>T
ENST00000453321.7:c.869+38G>T	ENSP00000389998.3:n.869+38G>T
ENST00000453906.5:c.407-5438G>T	ENSP00000403035.1:n.407-5438G>T
ENST00000474944.5:n.427-5438G>T
ENST00000496213.5:n.334+38G>T
NM_001142301.1:c.626+38G>T , LRG_688t2:c.626+38G>T	NP_001135773.1:n.626+38G>T
NM_153704.5:c.869+38G>T , LRG_688t1:c.869+38G>T	NP_714915.3:n.869+38G>T
NR_024522.1:n.940+38G>T
XM_006716686.2:c.566+38G>T	XP_006716749.1:n.566+38G>T
XM_006716687.2:c.269+38G>T	XP_006716750.1:n.269+38G>T
XM_011517363.1:c.407-5438G>T	XP_011515665.1:n.407-5438G>T
XR_428387.1:n.927+38G>T
XR_928360.1:n.927+38G>T
XR_928361.1:n.927+38G>T
XR_928362.1:n.927+38G>T
XM_006716686.4:c.566+38G>T	XP_006716749.1:n.566+38G>T
XM_011517363.3:c.407-5438G>T	XP_011515665.1:n.407-5438G>T
XM_024447326.1:c.215+38G>T	XP_024303094.1:n.215+38G>T
XR_001745619.2:n.910+38G>T
XR_428387.2:n.910+38G>T
XR_928360.3:n.910+38G>T
XR_928362.3:n.910+38G>T
NM_153704.6:c.869+38G>T MANE Select	NP_714915.3:n.869+38G>T
NR_024522.2:n.890+38G>T