Canonical Allele Identifier: CA4807692

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93765413C>T , CM000670.2:g.93765413C>T	GRCh38
NC_000008.10:g.94777641C>T , CM000670.1:g.94777641C>T	GRCh37
NC_000008.9:g.94846817C>T	NCBI36
NG_009190.1:g.15570C>T , LRG_688:g.15570C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.514C>T MANE Select	NP_714915.3:p.Arg172Ter
ENST00000453321.8:c.514C>T MANE Select	ENSP00000389998.3:p.Arg172Ter
NM_001142301.1:c.271C>T , LRG_688t2:c.271C>T	NP_001135773.1:p.Arg91Ter
NM_153704.5:c.514C>T , LRG_688t1:c.514C>T	NP_714915.3:p.Arg172Ter
NR_024522.1:n.585C>T
NR_024522.2:n.535C>T
ENST00000323130.7:c.484C>T	ENSP00000314488.3:p.Arg162Ter
ENST00000323130.8:c.514C>T	ENSP00000314488.4:p.Arg172Ter
ENST00000409623.7:c.271C>T	ENSP00000386966.3:p.Arg91Ter
ENST00000409623.8:c.514C>T	ENSP00000386966.4:p.Arg172Ter
ENST00000452276.5:c.205C>T	ENSP00000388671.1:p.Arg69Ter
ENST00000452276.6:c.514C>T	ENSP00000388671.2:p.Arg172Ter
ENST00000453321.7:c.514C>T	ENSP00000389998.3:p.Arg172Ter
ENST00000453906.5:c.406+6837C>T	ENSP00000403035.1:n.406+6837C>T
ENST00000453906.6:c.406+6837C>T	ENSP00000403035.2:n.406+6837C>T
ENST00000455946.5:c.*186C>T	ENSP00000416339.1:n.*186C>T
ENST00000474944.5:n.426+6837C>T
ENST00000518319.5:c.34C>T	ENSP00000430289.1:p.Arg12Ter
ENST00000520680.2:c.514C>T	ENSP00000428785.2:p.Arg172Ter
ENST00000521065.1:c.420C>T
ENST00000521065.2:c.*231C>T	ENSP00000427947.2:n.*231C>T
ENST00000521222.5:c.*150C>T	ENSP00000429925.1:n.*150C>T
ENST00000521517.5:c.499-159C>T
ENST00000521517.6:c.514C>T	ENSP00000430740.2:p.Arg172Ter
ENST00000681998.1:c.507-159C>T	ENSP00000506773.1:n.507-159C>T
ENST00000682036.1:c.406+6837C>T	ENSP00000508390.1:n.406+6837C>T
ENST00000682577.1:c.507-159C>T	ENSP00000506963.1:n.507-159C>T
ENST00000682624.1:c.*151-159C>T	ENSP00000508343.1:n.*151-159C>T
ENST00000682700.1:c.514C>T	ENSP00000507627.1:p.Arg172Ter
ENST00000682804.1:n.400-159C>T
ENST00000682837.1:c.406+6837C>T	ENSP00000507920.1:n.406+6837C>T
ENST00000682935.1:n.1978C>T
ENST00000682984.1:c.313-7176C>T	ENSP00000507209.1:n.313-7176C>T
ENST00000683078.1:c.406+6837C>T	ENSP00000506796.1:n.406+6837C>T
ENST00000683223.1:c.418-159C>T	ENSP00000507685.1:n.418-159C>T
ENST00000683238.1:n.1799C>T
ENST00000683249.1:n.1999C>T
ENST00000683336.1:c.507-159C>T	ENSP00000507695.1:n.507-159C>T
ENST00000683362.1:c.313-7176C>T	ENSP00000506985.1:n.313-7176C>T
ENST00000683850.1:n.437C>T
ENST00000683919.1:c.507-159C>T	ENSP00000507617.1:n.507-159C>T
ENST00000683953.1:c.425C>T	ENSP00000508375.1:n.425C>T
ENST00000684023.1:c.648C>T	ENSP00000507461.1:n.648C>T
ENST00000684064.1:c.205C>T	ENSP00000508192.1:p.Arg69Ter
ENST00000684089.1:n.1968C>T
ENST00000684149.1:c.507-159C>T	ENSP00000507943.1:n.507-159C>T
ENST00000684416.1:n.473C>T
ENST00000684540.1:c.507-159C>T	ENSP00000507987.1:n.507-159C>T
XM_006716686.2:c.211C>T	XP_006716749.1:p.Arg71Ter
XM_006716686.4:c.211C>T	XP_006716749.1:p.Arg71Ter
XM_011517363.1:c.406+6837C>T	XP_011515665.1:n.406+6837C>T
XM_011517363.3:c.406+6837C>T	XP_011515665.1:n.406+6837C>T
XM_024447326.1:c.-4+6837C>T	XP_024303094.1:n.-4+6837C>T
XR_001745619.2:n.555C>T
XR_428387.1:n.572C>T
XR_428387.2:n.555C>T
XR_928360.1:n.572C>T
XR_928360.3:n.555C>T
XR_928361.1:n.572C>T
XR_928362.1:n.572C>T
XR_928362.3:n.555C>T