Canonical Allele Identifier: CA371699871

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809889T>G , CM000670.2:g.93809889T>G	GRCh38
NC_000008.10:g.94822117T>G , CM000670.1:g.94822117T>G	GRCh37
NC_000008.9:g.94891293T>G	NCBI36
NG_009190.1:g.60046T>G , LRG_688:g.60046T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2764+2T>G MANE Select	NP_714915.3:n.2764+2T>G
ENST00000453321.8:c.2764+2T>G MANE Select	ENSP00000389998.3:n.2764+2T>G
NM_001142301.1:c.2521+2T>G , LRG_688t2:c.2521+2T>G	NP_001135773.1:n.2521+2T>G
NM_153704.5:c.2764+2T>G , LRG_688t1:c.2764+2T>G	NP_714915.3:n.2764+2T>G
NR_024522.1:n.2835+2T>G
NR_024522.2:n.2785+2T>G
ENST00000323130.7:c.2734+2T>G	ENSP00000314488.3:n.2734+2T>G
ENST00000323130.8:c.2764+2T>G	ENSP00000314488.4:n.2764+2T>G
ENST00000409623.7:c.2521+2T>G	ENSP00000386966.3:n.2521+2T>G
ENST00000409623.8:c.2719+2T>G	ENSP00000386966.4:n.2719+2T>G
ENST00000452276.6:c.2647+2T>G	ENSP00000388671.2:n.2647+2T>G
ENST00000453321.7:c.2764+2T>G	ENSP00000389998.3:n.2764+2T>G
ENST00000453906.6:c.1882+2T>G	ENSP00000403035.2:n.1882+2T>G
ENST00000474944.5:n.1904T>G
ENST00000518896.2:c.1055+2T>G	ENSP00000507992.1:n.1055+2T>G
ENST00000519845.5:n.1496+2T>G
ENST00000520680.2:c.2887+2T>G	ENSP00000428785.2:n.2887+2T>G
ENST00000521517.6:c.2665+2T>G	ENSP00000430740.2:n.2665+2T>G
ENST00000681998.1:c.2585+2T>G	ENSP00000506773.1:n.2585+2T>G
ENST00000682036.1:c.2005+2T>G	ENSP00000508390.1:n.2005+2T>G
ENST00000682577.1:c.2537+2T>G	ENSP00000506963.1:n.2537+2T>G
ENST00000682624.1:c.*2338+2T>G	ENSP00000508343.1:n.*2338+2T>G
ENST00000682700.1:c.2764+2T>G	ENSP00000507627.1:n.2764+2T>G
ENST00000682744.1:n.2199+728T>G
ENST00000682804.1:n.2587+2T>G
ENST00000682837.1:c.2253+2T>G	ENSP00000507920.1:n.2253+2T>G
ENST00000682935.1:n.4814+2T>G
ENST00000682984.1:c.2425+2T>G	ENSP00000507209.1:n.2425+2T>G
ENST00000683078.1:c.2519+2T>G	ENSP00000506796.1:n.2519+2T>G
ENST00000683223.1:c.2496+2T>G	ENSP00000507685.1:n.2496+2T>G
ENST00000683238.1:n.3988+2T>G
ENST00000683249.1:n.4361+2T>G
ENST00000683336.1:c.2482+728T>G	ENSP00000507695.1:n.2482+728T>G
ENST00000683362.1:c.2425+2T>G	ENSP00000506985.1:n.2425+2T>G
ENST00000683919.1:c.2694+2T>G	ENSP00000507617.1:n.2694+2T>G
ENST00000683953.1:c.2675+2T>G	ENSP00000508375.1:n.2675+2T>G
ENST00000684023.1:c.2741+2T>G	ENSP00000507461.1:n.2741+2T>G
ENST00000684064.1:c.2455+2T>G	ENSP00000508192.1:n.2455+2T>G
ENST00000684089.1:n.4314+2T>G
ENST00000684149.1:c.*1943+2T>G	ENSP00000507943.1:n.*1943+2T>G
ENST00000684343.1:c.961+2T>G	ENSP00000507591.1:n.961+2T>G
ENST00000684416.1:n.2723+2T>G
ENST00000684540.1:c.2694+2T>G	ENSP00000507987.1:n.2694+2T>G
XM_006716686.2:c.2461+2T>G	XP_006716749.1:n.2461+2T>G
XM_006716686.4:c.2461+2T>G	XP_006716749.1:n.2461+2T>G
XM_006716687.2:c.2164+2T>G	XP_006716750.1:n.2164+2T>G
XM_011517363.1:c.1882+2T>G	XP_011515665.1:n.1882+2T>G
XM_011517363.3:c.1882+2T>G	XP_011515665.1:n.1882+2T>G
XM_024447326.1:c.2110+2T>G	XP_024303094.1:n.2110+2T>G
XR_001745619.2:n.2805+2T>G
XR_428387.1:n.2822+2T>G
XR_428387.2:n.2805+2T>G
XR_928360.1:n.2822+2T>G
XR_928360.3:n.2805+2T>G
XR_928361.1:n.2822+2T>G
XR_928362.1:n.2822+2T>G
XR_928362.3:n.2805+2T>G