Canonical Allele Identifier: CA2687919641

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780441-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780441C>A , CM000670.2:g.93780441C>A	GRCh38
NC_000008.10:g.94792669C>A , CM000670.1:g.94792669C>A	GRCh37
NC_000008.9:g.94861845C>A	NCBI36
NG_009190.1:g.30598C>A , LRG_688:g.30598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.715-152C>A	ENSP00000314488.4:n.715-152C>A
ENST00000409623.8:c.715-152C>A	ENSP00000386966.4:n.715-152C>A
ENST00000452276.6:c.715-152C>A	ENSP00000388671.2:n.715-152C>A
ENST00000453906.6:c.407-5782C>A	ENSP00000403035.2:n.407-5782C>A
ENST00000520680.2:c.715-152C>A	ENSP00000428785.2:n.715-152C>A
ENST00000521065.2:c.*432-152C>A	ENSP00000427947.2:n.*432-152C>A
ENST00000521517.6:c.715-152C>A	ENSP00000430740.2:n.715-152C>A
ENST00000681998.1:c.645-152C>A	ENSP00000506773.1:n.645-152C>A
ENST00000682036.1:c.407-5782C>A	ENSP00000508390.1:n.407-5782C>A
ENST00000682577.1:c.645-152C>A	ENSP00000506963.1:n.645-152C>A
ENST00000682624.1:c.*289-152C>A	ENSP00000508343.1:n.*289-152C>A
ENST00000682700.1:c.715-152C>A	ENSP00000507627.1:n.715-152C>A
ENST00000682744.1:n.101C>A
ENST00000682804.1:n.538-152C>A
ENST00000682837.1:c.470-152C>A	ENSP00000507920.1:n.470-152C>A
ENST00000682935.1:n.2275-152C>A
ENST00000682984.1:c.376-152C>A	ENSP00000507209.1:n.376-152C>A
ENST00000683078.1:c.470-152C>A	ENSP00000506796.1:n.470-152C>A
ENST00000683223.1:c.556-152C>A	ENSP00000507685.1:n.556-152C>A
ENST00000683238.1:n.2096-152C>A
ENST00000683249.1:n.2296-152C>A
ENST00000683336.1:c.645-152C>A	ENSP00000507695.1:n.645-152C>A
ENST00000683362.1:c.376-152C>A	ENSP00000506985.1:n.376-152C>A
ENST00000683850.1:n.638-152C>A
ENST00000683919.1:c.645-152C>A	ENSP00000507617.1:n.645-152C>A
ENST00000683953.1:c.626-152C>A	ENSP00000508375.1:n.626-152C>A
ENST00000684023.1:c.849-152C>A	ENSP00000507461.1:n.849-152C>A
ENST00000684064.1:c.406-152C>A	ENSP00000508192.1:n.406-152C>A
ENST00000684089.1:n.2265-152C>A
ENST00000684149.1:c.*51-152C>A	ENSP00000507943.1:n.*51-152C>A
ENST00000684416.1:n.674-152C>A
ENST00000684540.1:c.645-152C>A	ENSP00000507987.1:n.645-152C>A
ENST00000453321.8:c.715-152C>A MANE Select	ENSP00000389998.3:n.715-152C>A
ENST00000323130.7:c.685-152C>A	ENSP00000314488.3:n.685-152C>A
ENST00000409623.7:c.472-152C>A	ENSP00000386966.3:n.472-152C>A
ENST00000425545.2:n.162-152C>A
ENST00000452276.5:c.406-152C>A	ENSP00000388671.1:n.406-152C>A
ENST00000453321.7:c.715-152C>A	ENSP00000389998.3:n.715-152C>A
ENST00000453906.5:c.407-5782C>A	ENSP00000403035.1:n.407-5782C>A
ENST00000474944.5:n.427-5782C>A
ENST00000496213.5:n.180-152C>A
NM_001142301.1:c.472-152C>A , LRG_688t2:c.472-152C>A	NP_001135773.1:n.472-152C>A
NM_153704.5:c.715-152C>A , LRG_688t1:c.715-152C>A	NP_714915.3:n.715-152C>A
NR_024522.1:n.786-152C>A
XM_006716686.2:c.412-152C>A	XP_006716749.1:n.412-152C>A
XM_006716687.2:c.115-152C>A	XP_006716750.1:n.115-152C>A
XM_011517363.1:c.407-5782C>A	XP_011515665.1:n.407-5782C>A
XR_428387.1:n.773-152C>A
XR_928360.1:n.773-152C>A
XR_928361.1:n.773-152C>A
XR_928362.1:n.773-152C>A
XM_006716686.4:c.412-152C>A	XP_006716749.1:n.412-152C>A
XM_011517363.3:c.407-5782C>A	XP_011515665.1:n.407-5782C>A
XM_024447326.1:c.61-152C>A	XP_024303094.1:n.61-152C>A
XR_001745619.2:n.756-152C>A
XR_428387.2:n.756-152C>A
XR_928360.3:n.756-152C>A
XR_928362.3:n.756-152C>A
NM_153704.6:c.715-152C>A MANE Select	NP_714915.3:n.715-152C>A
NR_024522.2:n.736-152C>A