Canonical Allele Identifier: CA371686273

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93763841G>T , CM000670.2:g.93763841G>T	GRCh38
NC_000008.10:g.94776069G>T , CM000670.1:g.94776069G>T	GRCh37
NC_000008.9:g.94845245G>T	NCBI36
NG_009190.1:g.13998G>T , LRG_688:g.13998G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.407-1G>T MANE Select	NP_714915.3:n.407-1G>T
ENST00000453321.8:c.407-1G>T MANE Select	ENSP00000389998.3:n.407-1G>T
NM_001142301.1:c.164-1G>T , LRG_688t2:c.164-1G>T	NP_001135773.1:n.164-1G>T
NM_153704.5:c.407-1G>T , LRG_688t1:c.407-1G>T	NP_714915.3:n.407-1G>T
NR_024522.1:n.478-1G>T
NR_024522.2:n.428-1G>T
ENST00000323130.7:c.377-1G>T	ENSP00000314488.3:n.377-1G>T
ENST00000323130.8:c.407-1G>T	ENSP00000314488.4:n.407-1G>T
ENST00000409623.7:c.164-1G>T	ENSP00000386966.3:n.164-1G>T
ENST00000409623.8:c.407-1G>T	ENSP00000386966.4:n.407-1G>T
ENST00000452276.5:c.98-1G>T	ENSP00000388671.1:n.98-1G>T
ENST00000452276.6:c.407-1G>T	ENSP00000388671.2:n.407-1G>T
ENST00000453321.7:c.407-1G>T	ENSP00000389998.3:n.407-1G>T
ENST00000453906.5:c.406+5265G>T	ENSP00000403035.1:n.406+5265G>T
ENST00000453906.6:c.406+5265G>T	ENSP00000403035.2:n.406+5265G>T
ENST00000455946.5:c.*79-1G>T	ENSP00000416339.1:n.*79-1G>T
ENST00000474944.5:n.426+5265G>T
ENST00000498673.5:c.-74-1G>T	ENSP00000430232.1:n.-74-1G>T
ENST00000518319.5:c.-74-1G>T	ENSP00000430289.1:n.-74-1G>T
ENST00000520680.2:c.407-1G>T	ENSP00000428785.2:n.407-1G>T
ENST00000521065.1:c.313-1G>T
ENST00000521065.2:c.*124-1G>T	ENSP00000427947.2:n.*124-1G>T
ENST00000521222.5:c.*43-1G>T	ENSP00000429925.1:n.*43-1G>T
ENST00000521517.5:c.399-1G>T
ENST00000521517.6:c.407-1G>T	ENSP00000430740.2:n.407-1G>T
ENST00000681998.1:c.407-1G>T	ENSP00000506773.1:n.407-1G>T
ENST00000682036.1:c.406+5265G>T	ENSP00000508390.1:n.406+5265G>T
ENST00000682577.1:c.407-1G>T	ENSP00000506963.1:n.407-1G>T
ENST00000682624.1:c.*51-1G>T	ENSP00000508343.1:n.*51-1G>T
ENST00000682700.1:c.407-1G>T	ENSP00000507627.1:n.407-1G>T
ENST00000682804.1:n.300-1G>T
ENST00000682837.1:c.406+5265G>T	ENSP00000507920.1:n.406+5265G>T
ENST00000682935.1:n.407-1G>T
ENST00000682984.1:c.312+7975G>T	ENSP00000507209.1:n.312+7975G>T
ENST00000683078.1:c.406+5265G>T	ENSP00000506796.1:n.406+5265G>T
ENST00000683223.1:c.318-1G>T	ENSP00000507685.1:n.318-1G>T
ENST00000683238.1:n.228-1G>T
ENST00000683249.1:n.428-1G>T
ENST00000683336.1:c.407-1G>T	ENSP00000507695.1:n.407-1G>T
ENST00000683362.1:c.312+7975G>T	ENSP00000506985.1:n.312+7975G>T
ENST00000683850.1:n.330-1G>T
ENST00000683919.1:c.407-1G>T	ENSP00000507617.1:n.407-1G>T
ENST00000683953.1:c.318-1G>T	ENSP00000508375.1:n.318-1G>T
ENST00000684023.1:c.541-1G>T	ENSP00000507461.1:n.541-1G>T
ENST00000684064.1:c.98-1G>T	ENSP00000508192.1:n.98-1G>T
ENST00000684089.1:n.397-1G>T
ENST00000684149.1:c.407-1G>T	ENSP00000507943.1:n.407-1G>T
ENST00000684416.1:n.366-1G>T
ENST00000684540.1:c.407-1G>T	ENSP00000507987.1:n.407-1G>T
XM_006716686.2:c.104-1G>T	XP_006716749.1:n.104-1G>T
XM_006716686.4:c.104-1G>T	XP_006716749.1:n.104-1G>T
XM_011517363.1:c.406+5265G>T	XP_011515665.1:n.406+5265G>T
XM_011517363.3:c.406+5265G>T	XP_011515665.1:n.406+5265G>T
XM_024447326.1:c.-4+5265G>T	XP_024303094.1:n.-4+5265G>T
XR_001745619.2:n.448-1G>T
XR_428387.1:n.465-1G>T
XR_428387.2:n.448-1G>T
XR_928360.1:n.465-1G>T
XR_928360.3:n.448-1G>T
XR_928361.1:n.465-1G>T
XR_928362.1:n.465-1G>T
XR_928362.3:n.448-1G>T