Canonical Allele Identifier: CA2717986970

Gene: TMEM67

Linked Data

• dbSNP Id: rs2130690315

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786176C>T , CM000670.2:g.93786176C>T	GRCh38
NC_000008.10:g.94798404C>T , CM000670.1:g.94798404C>T	GRCh37
NC_000008.9:g.94867580C>T	NCBI36
NG_009190.1:g.36333C>T , LRG_688:g.36333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1289-47C>T	ENSP00000314488.4:n.1289-47C>T
ENST00000409623.8:c.1289-92C>T	ENSP00000386966.4:n.1289-92C>T
ENST00000452276.6:c.1289-47C>T	ENSP00000388671.2:n.1289-47C>T
ENST00000453906.6:c.407-47C>T	ENSP00000403035.2:n.407-47C>T
ENST00000520680.2:c.1289-47C>T	ENSP00000428785.2:n.1289-47C>T
ENST00000521517.6:c.1289-47C>T	ENSP00000430740.2:n.1289-47C>T
ENST00000681998.1:c.1110-47C>T	ENSP00000506773.1:n.1110-47C>T
ENST00000682036.1:c.407-47C>T	ENSP00000508390.1:n.407-47C>T
ENST00000682577.1:c.1062-47C>T	ENSP00000506963.1:n.1062-47C>T
ENST00000682624.1:c.*863-47C>T	ENSP00000508343.1:n.*863-47C>T
ENST00000682700.1:c.1289-47C>T	ENSP00000507627.1:n.1289-47C>T
ENST00000682744.1:n.827-47C>T
ENST00000682804.1:n.1112-47C>T
ENST00000682837.1:c.778-47C>T	ENSP00000507920.1:n.778-47C>T
ENST00000682935.1:n.3292C>T
ENST00000682984.1:c.950-47C>T	ENSP00000507209.1:n.950-47C>T
ENST00000683078.1:c.1044-47C>T	ENSP00000506796.1:n.1044-47C>T
ENST00000683223.1:c.1021-47C>T	ENSP00000507685.1:n.1021-47C>T
ENST00000683238.1:n.2513-47C>T
ENST00000683249.1:n.2886-47C>T
ENST00000683336.1:c.1110-47C>T	ENSP00000507695.1:n.1110-47C>T
ENST00000683362.1:c.950-47C>T	ENSP00000506985.1:n.950-47C>T
ENST00000683850.1:n.1212-47C>T
ENST00000683919.1:c.1219-47C>T	ENSP00000507617.1:n.1219-47C>T
ENST00000683953.1:c.1200-47C>T	ENSP00000508375.1:n.1200-47C>T
ENST00000684023.1:c.1266-47C>T	ENSP00000507461.1:n.1266-47C>T
ENST00000684064.1:c.980-47C>T	ENSP00000508192.1:n.980-47C>T
ENST00000684089.1:n.2839-47C>T
ENST00000684149.1:c.*468-47C>T	ENSP00000507943.1:n.*468-47C>T
ENST00000684416.1:n.1248-47C>T
ENST00000684540.1:c.1219-47C>T	ENSP00000507987.1:n.1219-47C>T
ENST00000453321.8:c.1289-47C>T MANE Select	ENSP00000389998.3:n.1289-47C>T
ENST00000323130.7:c.1259-47C>T	ENSP00000314488.3:n.1259-47C>T
ENST00000409623.7:c.1046-47C>T	ENSP00000386966.3:n.1046-47C>T
ENST00000452276.5:c.980-47C>T	ENSP00000388671.1:n.980-47C>T
ENST00000453321.7:c.1289-47C>T	ENSP00000389998.3:n.1289-47C>T
ENST00000453906.5:c.407-47C>T	ENSP00000403035.1:n.407-47C>T
ENST00000474944.5:n.427-47C>T
ENST00000520680.1:c.111-47C>T
NM_001142301.1:c.1046-47C>T , LRG_688t2:c.1046-47C>T	NP_001135773.1:n.1046-47C>T
NM_153704.5:c.1289-47C>T , LRG_688t1:c.1289-47C>T	NP_714915.3:n.1289-47C>T
NR_024522.1:n.1360-47C>T
XM_006716686.2:c.986-47C>T	XP_006716749.1:n.986-47C>T
XM_006716687.2:c.689-47C>T	XP_006716750.1:n.689-47C>T
XM_011517363.1:c.407-47C>T	XP_011515665.1:n.407-47C>T
XR_428387.1:n.1347-47C>T
XR_928360.1:n.1347-47C>T
XR_928361.1:n.1347-47C>T
XR_928362.1:n.1347-47C>T
XM_006716686.4:c.986-47C>T	XP_006716749.1:n.986-47C>T
XM_011517363.3:c.407-47C>T	XP_011515665.1:n.407-47C>T
XM_024447326.1:c.635-47C>T	XP_024303094.1:n.635-47C>T
XR_001745619.2:n.1330-47C>T
XR_428387.2:n.1330-47C>T
XR_928360.3:n.1330-47C>T
XR_928362.3:n.1330-47C>T
NM_153704.6:c.1289-47C>T MANE Select	NP_714915.3:n.1289-47C>T
NR_024522.2:n.1310-47C>T