Canonical Allele Identifier: CA4807912

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93785375C>T , CM000670.2:g.93785375C>T	GRCh38
NC_000008.10:g.94797603C>T , CM000670.1:g.94797603C>T	GRCh37
NC_000008.9:g.94866779C>T	NCBI36
NG_009190.1:g.35532C>T , LRG_688:g.35532C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1285C>T MANE Select	NP_714915.3:p.Gln429Ter
ENST00000453321.8:c.1285C>T MANE Select	ENSP00000389998.3:p.Gln429Ter
NM_001142301.1:c.1042C>T , LRG_688t2:c.1042C>T	NP_001135773.1:p.Gln348Ter
NM_153704.5:c.1285C>T , LRG_688t1:c.1285C>T	NP_714915.3:p.Gln429Ter
NR_024522.1:n.1356C>T
NR_024522.2:n.1306C>T
ENST00000323130.7:c.1255C>T	ENSP00000314488.3:p.Gln419Ter
ENST00000323130.8:c.1285C>T	ENSP00000314488.4:p.Gln429Ter
ENST00000409623.7:c.1042C>T	ENSP00000386966.3:p.Gln348Ter
ENST00000409623.8:c.1285C>T	ENSP00000386966.4:p.Gln429Ter
ENST00000452276.5:c.976C>T	ENSP00000388671.1:p.Gln326Ter
ENST00000452276.6:c.1285C>T	ENSP00000388671.2:p.Gln429Ter
ENST00000453321.7:c.1285C>T	ENSP00000389998.3:p.Gln429Ter
ENST00000453906.5:c.407-848C>T	ENSP00000403035.1:n.407-848C>T
ENST00000453906.6:c.407-848C>T	ENSP00000403035.2:n.407-848C>T
ENST00000474944.5:n.427-848C>T
ENST00000520634.1:n.154C>T
ENST00000520680.1:c.107C>T
ENST00000520680.2:c.1285C>T	ENSP00000428785.2:p.Gln429Ter
ENST00000521517.6:c.1285C>T	ENSP00000430740.2:p.Gln429Ter
ENST00000681998.1:c.1106C>T	ENSP00000506773.1:n.1106C>T
ENST00000682036.1:c.407-848C>T	ENSP00000508390.1:n.407-848C>T
ENST00000682577.1:c.1062-848C>T	ENSP00000506963.1:n.1062-848C>T
ENST00000682624.1:c.*859C>T	ENSP00000508343.1:n.*859C>T
ENST00000682700.1:c.1285C>T	ENSP00000507627.1:p.Gln429Ter
ENST00000682744.1:n.823C>T
ENST00000682804.1:n.1108C>T
ENST00000682837.1:c.778-848C>T	ENSP00000507920.1:n.778-848C>T
ENST00000682935.1:n.2845C>T
ENST00000682984.1:c.946C>T	ENSP00000507209.1:p.Gln316Ter
ENST00000683078.1:c.1040C>T	ENSP00000506796.1:n.1040C>T
ENST00000683223.1:c.1017C>T	ENSP00000507685.1:n.1017C>T
ENST00000683238.1:n.2513-848C>T
ENST00000683249.1:n.2882C>T
ENST00000683336.1:c.1106C>T	ENSP00000507695.1:n.1106C>T
ENST00000683362.1:c.946C>T	ENSP00000506985.1:p.Gln316Ter
ENST00000683850.1:n.1208C>T
ENST00000683919.1:c.1215C>T	ENSP00000507617.1:n.1215C>T
ENST00000683953.1:c.1196C>T	ENSP00000508375.1:n.1196C>T
ENST00000684023.1:c.1266-848C>T	ENSP00000507461.1:n.1266-848C>T
ENST00000684064.1:c.976C>T	ENSP00000508192.1:p.Gln326Ter
ENST00000684089.1:n.2835C>T
ENST00000684149.1:c.*468-848C>T	ENSP00000507943.1:n.*468-848C>T
ENST00000684416.1:n.1244C>T
ENST00000684540.1:c.1215C>T	ENSP00000507987.1:n.1215C>T
XM_006716686.2:c.982C>T	XP_006716749.1:p.Gln328Ter
XM_006716686.4:c.982C>T	XP_006716749.1:p.Gln328Ter
XM_006716687.2:c.685C>T	XP_006716750.1:p.Gln229Ter
XM_011517363.1:c.407-848C>T	XP_011515665.1:n.407-848C>T
XM_011517363.3:c.407-848C>T	XP_011515665.1:n.407-848C>T
XM_024447326.1:c.631C>T	XP_024303094.1:p.Gln211Ter
XR_001745619.2:n.1326C>T
XR_428387.1:n.1343C>T
XR_428387.2:n.1326C>T
XR_928360.1:n.1343C>T
XR_928360.3:n.1326C>T
XR_928361.1:n.1343C>T
XR_928362.1:n.1343C>T
XR_928362.3:n.1326C>T