Canonical Allele Identifier: CA371699196

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821301G>T (hg19) ; chr8:g.93809073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809073G>T , CM000670.2:g.93809073G>T	GRCh38
NC_000008.10:g.94821301G>T , CM000670.1:g.94821301G>T	GRCh37
NC_000008.9:g.94890477G>T	NCBI36
NG_009190.1:g.59230G>T , LRG_688:g.59230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2573G>T	ENSP00000314488.4:p.Arg858Ile
ENST00000409623.8:c.2528G>T	ENSP00000386966.4:p.Arg843Ile
ENST00000452276.6:c.2456G>T	ENSP00000388671.2:p.Arg819Ile
ENST00000453906.6:c.1691G>T	ENSP00000403035.2:p.Arg564Ile
ENST00000518896.2:c.864G>T	ENSP00000507992.1:n.864G>T
ENST00000520680.2:c.2696G>T	ENSP00000428785.2:p.Arg899Ile
ENST00000521517.6:c.2474G>T	ENSP00000430740.2:p.Arg825Ile
ENST00000681998.1:c.2394G>T	ENSP00000506773.1:n.2394G>T
ENST00000682036.1:c.1814G>T	ENSP00000508390.1:p.Arg605Ile
ENST00000682577.1:c.2346G>T	ENSP00000506963.1:n.2346G>T
ENST00000682624.1:c.*2147G>T	ENSP00000508343.1:n.*2147G>T
ENST00000682700.1:c.2573G>T	ENSP00000507627.1:p.Arg858Ile
ENST00000682744.1:n.2111G>T
ENST00000682804.1:n.2396G>T
ENST00000682837.1:c.2062G>T	ENSP00000507920.1:n.2062G>T
ENST00000682935.1:n.4623G>T
ENST00000682984.1:c.2234G>T	ENSP00000507209.1:p.Arg745Ile
ENST00000683078.1:c.2328G>T	ENSP00000506796.1:n.2328G>T
ENST00000683223.1:c.2305G>T	ENSP00000507685.1:n.2305G>T
ENST00000683238.1:n.3797G>T
ENST00000683249.1:n.4170G>T
ENST00000683336.1:c.2394G>T	ENSP00000507695.1:n.2394G>T
ENST00000683362.1:c.2234G>T	ENSP00000506985.1:p.Arg745Ile
ENST00000683850.1:n.2496G>T
ENST00000683919.1:c.2503G>T	ENSP00000507617.1:n.2503G>T
ENST00000683953.1:c.2484G>T	ENSP00000508375.1:n.2484G>T
ENST00000684023.1:c.2550G>T	ENSP00000507461.1:n.2550G>T
ENST00000684064.1:c.2264G>T	ENSP00000508192.1:p.Arg755Ile
ENST00000684089.1:n.4123G>T
ENST00000684149.1:c.*1752G>T	ENSP00000507943.1:n.*1752G>T
ENST00000684343.1:c.770G>T	ENSP00000507591.1:p.Arg257Ile
ENST00000684416.1:n.2532G>T
ENST00000684540.1:c.2503G>T	ENSP00000507987.1:n.2503G>T
ENST00000453321.8:c.2573G>T MANE Select	ENSP00000389998.3:p.Arg858Ile
ENST00000323130.7:c.2543G>T	ENSP00000314488.3:p.Arg848Ile
ENST00000409623.7:c.2330G>T	ENSP00000386966.3:p.Arg777Ile
ENST00000453321.7:c.2573G>T	ENSP00000389998.3:p.Arg858Ile
ENST00000474944.5:n.1711G>T
ENST00000519845.5:n.1305G>T
NM_001142301.1:c.2330G>T , LRG_688t2:c.2330G>T	NP_001135773.1:p.Arg777Ile
NM_153704.5:c.2573G>T , LRG_688t1:c.2573G>T	NP_714915.3:p.Arg858Ile
NR_024522.1:n.2644G>T
XM_006716686.2:c.2270G>T	XP_006716749.1:p.Arg757Ile
XM_006716687.2:c.1973G>T	XP_006716750.1:p.Arg658Ile
XM_011517363.1:c.1691G>T	XP_011515665.1:p.Arg564Ile
XR_428387.1:n.2631G>T
XR_928360.1:n.2631G>T
XR_928361.1:n.2631G>T
XR_928362.1:n.2631G>T
XM_006716686.4:c.2270G>T	XP_006716749.1:p.Arg757Ile
XM_011517363.3:c.1691G>T	XP_011515665.1:p.Arg564Ile
XM_024447326.1:c.1919G>T	XP_024303094.1:p.Arg640Ile
XR_001745619.2:n.2614G>T
XR_428387.2:n.2614G>T
XR_928360.3:n.2614G>T
XR_928362.3:n.2614G>T
NM_153704.6:c.2573G>T MANE Select	NP_714915.3:p.Arg858Ile
NR_024522.2:n.2594G>T