Canonical Allele Identifier: CA461855655

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792841T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780613T>G , CM000670.2:g.93780613T>G	GRCh38
NC_000008.10:g.94792841T>G , CM000670.1:g.94792841T>G	GRCh37
NC_000008.9:g.94862017T>G	NCBI36
NG_009190.1:g.30770T>G , LRG_688:g.30770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.735T>G	ENSP00000314488.4:p.Ser245=
ENST00000409623.8:c.735T>G	ENSP00000386966.4:p.Ser245=
ENST00000452276.6:c.735T>G	ENSP00000388671.2:p.Ser245=
ENST00000453906.6:c.407-5610T>G	ENSP00000403035.2:n.407-5610T>G
ENST00000520680.2:c.735T>G	ENSP00000428785.2:p.Ser245=
ENST00000521065.2:c.*452T>G	ENSP00000427947.2:n.*452T>G
ENST00000521517.6:c.735T>G	ENSP00000430740.2:p.Ser245=
ENST00000681998.1:c.665T>G	ENSP00000506773.1:n.665T>G
ENST00000682036.1:c.407-5610T>G	ENSP00000508390.1:n.407-5610T>G
ENST00000682577.1:c.665T>G	ENSP00000506963.1:n.665T>G
ENST00000682624.1:c.*309T>G	ENSP00000508343.1:n.*309T>G
ENST00000682700.1:c.735T>G	ENSP00000507627.1:p.Ser245=
ENST00000682744.1:n.273T>G
ENST00000682804.1:n.558T>G
ENST00000682837.1:c.490T>G	ENSP00000507920.1:p.Leu164Val
ENST00000682935.1:n.2295T>G
ENST00000682984.1:c.396T>G	ENSP00000507209.1:p.Ser132=
ENST00000683078.1:c.490T>G	ENSP00000506796.1:p.Leu164Val
ENST00000683223.1:c.576T>G	ENSP00000507685.1:n.576T>G
ENST00000683238.1:n.2116T>G
ENST00000683249.1:n.2316T>G
ENST00000683336.1:c.665T>G	ENSP00000507695.1:n.665T>G
ENST00000683362.1:c.396T>G	ENSP00000506985.1:p.Ser132=
ENST00000683850.1:n.658T>G
ENST00000683919.1:c.665T>G	ENSP00000507617.1:n.665T>G
ENST00000683953.1:c.646T>G	ENSP00000508375.1:n.646T>G
ENST00000684023.1:c.869T>G	ENSP00000507461.1:n.869T>G
ENST00000684064.1:c.426T>G	ENSP00000508192.1:p.Ser142=
ENST00000684089.1:n.2285T>G
ENST00000684149.1:c.*71T>G	ENSP00000507943.1:n.*71T>G
ENST00000684416.1:n.694T>G
ENST00000684540.1:c.665T>G	ENSP00000507987.1:n.665T>G
ENST00000453321.8:c.735T>G MANE Select	ENSP00000389998.3:p.Ser245=
ENST00000323130.7:c.705T>G	ENSP00000314488.3:p.Ser235=
ENST00000409623.7:c.492T>G	ENSP00000386966.3:p.Ser164=
ENST00000425545.2:n.182T>G
ENST00000452276.5:c.426T>G	ENSP00000388671.1:p.Ser142=
ENST00000453321.7:c.735T>G	ENSP00000389998.3:p.Ser245=
ENST00000453906.5:c.407-5610T>G	ENSP00000403035.1:n.407-5610T>G
ENST00000474944.5:n.427-5610T>G
ENST00000496213.5:n.200T>G
NM_001142301.1:c.492T>G , LRG_688t2:c.492T>G	NP_001135773.1:p.Ser164=
NM_153704.5:c.735T>G , LRG_688t1:c.735T>G	NP_714915.3:p.Ser245=
NR_024522.1:n.806T>G
XM_006716686.2:c.432T>G	XP_006716749.1:p.Ser144=
XM_006716687.2:c.135T>G	XP_006716750.1:p.Ser45=
XM_011517363.1:c.407-5610T>G	XP_011515665.1:n.407-5610T>G
XR_428387.1:n.793T>G
XR_928360.1:n.793T>G
XR_928361.1:n.793T>G
XR_928362.1:n.793T>G
XM_006716686.4:c.432T>G	XP_006716749.1:p.Ser144=
XM_011517363.3:c.407-5610T>G	XP_011515665.1:n.407-5610T>G
XM_024447326.1:c.81T>G	XP_024303094.1:p.Ser27=
XR_001745619.2:n.776T>G
XR_428387.2:n.776T>G
XR_928360.3:n.776T>G
XR_928362.3:n.776T>G
NM_153704.6:c.735T>G MANE Select	NP_714915.3:p.Ser245=
NR_024522.2:n.756T>G