Canonical Allele Identifier: CA371701319

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93815419C>T , CM000670.2:g.93815419C>T	GRCh38
NC_000008.10:g.94827647C>T , CM000670.1:g.94827647C>T	GRCh37
NC_000008.9:g.94896823C>T	NCBI36
NG_009190.1:g.65576C>T , LRG_688:g.65576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2879C>T MANE Select	NP_714915.3:p.Ala960Val
ENST00000453321.8:c.2879C>T MANE Select	ENSP00000389998.3:p.Ala960Val
NM_001142301.1:c.2636C>T , LRG_688t2:c.2636C>T	NP_001135773.1:p.Ala879Val
NM_153704.5:c.2879C>T , LRG_688t1:c.2879C>T	NP_714915.3:p.Ala960Val
NR_024522.1:n.2950C>T
NR_024522.2:n.2900C>T
ENST00000323130.7:c.2849C>T	ENSP00000314488.3:p.Ala950Val
ENST00000323130.8:c.2879C>T	ENSP00000314488.4:p.Ala960Val
ENST00000409623.7:c.2636C>T	ENSP00000386966.3:p.Ala879Val
ENST00000409623.8:c.2834C>T	ENSP00000386966.4:p.Ala945Val
ENST00000452276.6:c.2762C>T	ENSP00000388671.2:p.Ala921Val
ENST00000453321.7:c.2879C>T	ENSP00000389998.3:p.Ala960Val
ENST00000453906.6:c.1997C>T	ENSP00000403035.2:p.Ala666Val
ENST00000518896.1:n.145C>T
ENST00000518896.2:c.1170C>T	ENSP00000507992.1:n.1170C>T
ENST00000519845.5:n.1611C>T
ENST00000520680.2:c.3002C>T	ENSP00000428785.2:p.Ala1001Val
ENST00000521517.6:c.2780C>T	ENSP00000430740.2:p.Ala927Val
ENST00000681998.1:c.2700C>T	ENSP00000506773.1:n.2700C>T
ENST00000682036.1:c.2120C>T	ENSP00000508390.1:p.Ala707Val
ENST00000682577.1:c.2652C>T	ENSP00000506963.1:n.2652C>T
ENST00000682624.1:c.*2453C>T	ENSP00000508343.1:n.*2453C>T
ENST00000682700.1:c.3010C>T	ENSP00000507627.1:n.3010C>T
ENST00000682744.1:n.2314C>T
ENST00000682804.1:n.2702C>T
ENST00000682837.1:c.2368C>T	ENSP00000507920.1:n.2368C>T
ENST00000682935.1:n.4929C>T
ENST00000682984.1:c.2540C>T	ENSP00000507209.1:p.Ala847Val
ENST00000683078.1:c.2634C>T	ENSP00000506796.1:n.2634C>T
ENST00000683223.1:c.2805C>T	ENSP00000507685.1:n.2805C>T
ENST00000683238.1:n.4103C>T
ENST00000683249.1:n.4476C>T
ENST00000683336.1:c.2597C>T	ENSP00000507695.1:n.2597C>T
ENST00000683362.1:c.2540C>T	ENSP00000506985.1:p.Ala847Val
ENST00000683919.1:c.2809C>T	ENSP00000507617.1:n.2809C>T
ENST00000683953.1:c.2790C>T	ENSP00000508375.1:n.2790C>T
ENST00000684023.1:c.3050C>T	ENSP00000507461.1:n.3050C>T
ENST00000684064.1:c.2570C>T	ENSP00000508192.1:p.Ala857Val
ENST00000684089.1:n.4429C>T
ENST00000684149.1:c.*2058C>T	ENSP00000507943.1:n.*2058C>T
ENST00000684343.1:c.1076C>T	ENSP00000507591.1:p.Ala359Val
ENST00000684416.1:n.2838C>T
ENST00000684540.1:c.3003C>T	ENSP00000507987.1:n.3003C>T
XM_006716686.2:c.2576C>T	XP_006716749.1:p.Ala859Val
XM_006716686.4:c.2576C>T	XP_006716749.1:p.Ala859Val
XM_006716687.2:c.2279C>T	XP_006716750.1:p.Ala760Val
XM_011517363.1:c.1997C>T	XP_011515665.1:p.Ala666Val
XM_011517363.3:c.1997C>T	XP_011515665.1:p.Ala666Val
XM_024447326.1:c.2225C>T	XP_024303094.1:p.Ala742Val
XR_001745619.2:n.2920C>T
XR_428387.1:n.2937C>T
XR_428387.2:n.2920C>T
XR_928360.1:n.2937C>T
XR_928360.3:n.2920C>T
XR_928361.1:n.2937C>T
XR_928362.1:n.3131C>T
XR_928362.3:n.3114C>T