Canonical Allele Identifier: CA461855748

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793132A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780904A>C , CM000670.2:g.93780904A>C	GRCh38
NC_000008.10:g.94793132A>C , CM000670.1:g.94793132A>C	GRCh37
NC_000008.9:g.94862308A>C	NCBI36
NG_009190.1:g.31061A>C , LRG_688:g.31061A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.900A>C	ENSP00000314488.4:p.Gly300=
ENST00000409623.8:c.900A>C	ENSP00000386966.4:p.Gly300=
ENST00000452276.6:c.900A>C	ENSP00000388671.2:p.Gly300=
ENST00000453906.6:c.407-5319A>C	ENSP00000403035.2:n.407-5319A>C
ENST00000520680.2:c.900A>C	ENSP00000428785.2:p.Gly300=
ENST00000521065.2:c.*617A>C	ENSP00000427947.2:n.*617A>C
ENST00000521517.6:c.900A>C	ENSP00000430740.2:p.Gly300=
ENST00000681998.1:c.799+157A>C	ENSP00000506773.1:n.799+157A>C
ENST00000682036.1:c.407-5319A>C	ENSP00000508390.1:n.407-5319A>C
ENST00000682577.1:c.830A>C	ENSP00000506963.1:n.830A>C
ENST00000682624.1:c.*474A>C	ENSP00000508343.1:n.*474A>C
ENST00000682700.1:c.900A>C	ENSP00000507627.1:p.Gly300=
ENST00000682744.1:n.438A>C
ENST00000682804.1:n.723A>C
ENST00000682837.1:c.624+157A>C	ENSP00000507920.1:n.624+157A>C
ENST00000682935.1:n.2460A>C
ENST00000682984.1:c.561A>C	ENSP00000507209.1:p.Gly187=
ENST00000683078.1:c.655A>C	ENSP00000506796.1:n.655A>C
ENST00000683223.1:c.710+157A>C	ENSP00000507685.1:n.710+157A>C
ENST00000683238.1:n.2281A>C
ENST00000683249.1:n.2497A>C
ENST00000683336.1:c.799+157A>C	ENSP00000507695.1:n.799+157A>C
ENST00000683362.1:c.561A>C	ENSP00000506985.1:p.Gly187=
ENST00000683850.1:n.823A>C
ENST00000683919.1:c.830A>C	ENSP00000507617.1:n.830A>C
ENST00000683953.1:c.811A>C	ENSP00000508375.1:n.811A>C
ENST00000684023.1:c.1034A>C	ENSP00000507461.1:n.1034A>C
ENST00000684064.1:c.591A>C	ENSP00000508192.1:p.Gly197=
ENST00000684089.1:n.2450A>C
ENST00000684149.1:c.*236A>C	ENSP00000507943.1:n.*236A>C
ENST00000684416.1:n.859A>C
ENST00000684540.1:c.830A>C	ENSP00000507987.1:n.830A>C
ENST00000453321.8:c.900A>C MANE Select	ENSP00000389998.3:p.Gly300=
ENST00000323130.7:c.870A>C	ENSP00000314488.3:p.Gly290=
ENST00000409623.7:c.657A>C	ENSP00000386966.3:p.Gly219=
ENST00000425545.2:n.347A>C
ENST00000452276.5:c.591A>C	ENSP00000388671.1:p.Gly197=
ENST00000453321.7:c.900A>C	ENSP00000389998.3:p.Gly300=
ENST00000453906.5:c.407-5319A>C	ENSP00000403035.1:n.407-5319A>C
ENST00000474944.5:n.427-5319A>C
ENST00000496213.5:n.365A>C
NM_001142301.1:c.657A>C , LRG_688t2:c.657A>C	NP_001135773.1:p.Gly219=
NM_153704.5:c.900A>C , LRG_688t1:c.900A>C	NP_714915.3:p.Gly300=
NR_024522.1:n.971A>C
XM_006716686.2:c.597A>C	XP_006716749.1:p.Gly199=
XM_006716687.2:c.300A>C	XP_006716750.1:p.Gly100=
XM_011517363.1:c.407-5319A>C	XP_011515665.1:n.407-5319A>C
XR_428387.1:n.958A>C
XR_928360.1:n.958A>C
XR_928361.1:n.958A>C
XR_928362.1:n.958A>C
XM_006716686.4:c.597A>C	XP_006716749.1:p.Gly199=
XM_011517363.3:c.407-5319A>C	XP_011515665.1:n.407-5319A>C
XM_024447326.1:c.246A>C	XP_024303094.1:p.Gly82=
XR_001745619.2:n.941A>C
XR_428387.2:n.941A>C
XR_928360.3:n.941A>C
XR_928362.3:n.941A>C
NM_153704.6:c.900A>C MANE Select	NP_714915.3:p.Gly300=
NR_024522.2:n.921A>C