Canonical Allele Identifier: CA461867420

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2930053
• ClinVar RCV Id: RCV003787411
• MyVariant Identifiers: chr8:g.94821112T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808884T>A , CM000670.2:g.93808884T>A	GRCh38
NC_000008.10:g.94821112T>A , CM000670.1:g.94821112T>A	GRCh37
NC_000008.9:g.94890288T>A	NCBI36
NG_009190.1:g.59041T>A , LRG_688:g.59041T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2484T>A	ENSP00000314488.4:p.Gly828=
ENST00000409623.8:c.2439T>A	ENSP00000386966.4:p.Gly813=
ENST00000452276.6:c.2367T>A	ENSP00000388671.2:p.Gly789=
ENST00000453906.6:c.1602T>A	ENSP00000403035.2:p.Gly534=
ENST00000518896.2:c.775T>A	ENSP00000507992.1:n.775T>A
ENST00000520680.2:c.2607T>A	ENSP00000428785.2:p.Gly869=
ENST00000521517.6:c.2385T>A	ENSP00000430740.2:p.Gly795=
ENST00000681998.1:c.2305T>A	ENSP00000506773.1:n.2305T>A
ENST00000682036.1:c.1725T>A	ENSP00000508390.1:p.Gly575=
ENST00000682577.1:c.2257T>A	ENSP00000506963.1:n.2257T>A
ENST00000682624.1:c.*2058T>A	ENSP00000508343.1:n.*2058T>A
ENST00000682700.1:c.2484T>A	ENSP00000507627.1:p.Gly828=
ENST00000682744.1:n.2022T>A
ENST00000682804.1:n.2307T>A
ENST00000682837.1:c.1973T>A	ENSP00000507920.1:n.1973T>A
ENST00000682935.1:n.4534T>A
ENST00000682984.1:c.2145T>A	ENSP00000507209.1:p.Gly715=
ENST00000683078.1:c.2239T>A	ENSP00000506796.1:n.2239T>A
ENST00000683223.1:c.2216T>A	ENSP00000507685.1:n.2216T>A
ENST00000683238.1:n.3708T>A
ENST00000683249.1:n.4081T>A
ENST00000683336.1:c.2305T>A	ENSP00000507695.1:n.2305T>A
ENST00000683362.1:c.2145T>A	ENSP00000506985.1:p.Gly715=
ENST00000683850.1:n.2407T>A
ENST00000683919.1:c.2414T>A	ENSP00000507617.1:n.2414T>A
ENST00000683953.1:c.2395T>A	ENSP00000508375.1:n.2395T>A
ENST00000684023.1:c.2461T>A	ENSP00000507461.1:n.2461T>A
ENST00000684064.1:c.2175T>A	ENSP00000508192.1:p.Gly725=
ENST00000684089.1:n.4034T>A
ENST00000684149.1:c.*1663T>A	ENSP00000507943.1:n.*1663T>A
ENST00000684343.1:c.681T>A	ENSP00000507591.1:p.Gly227=
ENST00000684416.1:n.2443T>A
ENST00000684540.1:c.2414T>A	ENSP00000507987.1:n.2414T>A
ENST00000453321.8:c.2484T>A MANE Select	ENSP00000389998.3:p.Gly828=
ENST00000323130.7:c.2454T>A	ENSP00000314488.3:p.Gly818=
ENST00000409623.7:c.2241T>A	ENSP00000386966.3:p.Gly747=
ENST00000453321.7:c.2484T>A	ENSP00000389998.3:p.Gly828=
ENST00000474944.5:n.1622T>A
ENST00000519845.5:n.1216T>A
NM_001142301.1:c.2241T>A , LRG_688t2:c.2241T>A	NP_001135773.1:p.Gly747=
NM_153704.5:c.2484T>A , LRG_688t1:c.2484T>A	NP_714915.3:p.Gly828=
NR_024522.1:n.2555T>A
XM_006716686.2:c.2181T>A	XP_006716749.1:p.Gly727=
XM_006716687.2:c.1884T>A	XP_006716750.1:p.Gly628=
XM_011517363.1:c.1602T>A	XP_011515665.1:p.Gly534=
XR_428387.1:n.2542T>A
XR_928360.1:n.2542T>A
XR_928361.1:n.2542T>A
XR_928362.1:n.2542T>A
XM_006716686.4:c.2181T>A	XP_006716749.1:p.Gly727=
XM_011517363.3:c.1602T>A	XP_011515665.1:p.Gly534=
XM_024447326.1:c.1830T>A	XP_024303094.1:p.Gly610=
XR_001745619.2:n.2525T>A
XR_428387.2:n.2525T>A
XR_928360.3:n.2525T>A
XR_928362.3:n.2525T>A
NM_153704.6:c.2484T>A MANE Select	NP_714915.3:p.Gly828=
NR_024522.2:n.2505T>A