Canonical Allele Identifier: CA371693285

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94809410T>C (hg19) ; chr8:g.93797182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93797182T>C , CM000670.2:g.93797182T>C	GRCh38
NC_000008.10:g.94809410T>C , CM000670.1:g.94809410T>C	GRCh37
NC_000008.9:g.94878586T>C	NCBI36
NG_009190.1:g.47339T>C , LRG_688:g.47339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1909T>C	ENSP00000314488.4:p.Phe637Leu
ENST00000409623.8:c.1864T>C	ENSP00000386966.4:p.Phe622Leu
ENST00000452276.6:c.1909T>C	ENSP00000388671.2:p.Phe637Leu
ENST00000453906.6:c.1027T>C	ENSP00000403035.2:p.Phe343Leu
ENST00000518896.2:c.200T>C	ENSP00000507992.1:n.200T>C
ENST00000520680.2:c.2032T>C	ENSP00000428785.2:p.Phe678Leu
ENST00000521517.6:c.1810T>C	ENSP00000430740.2:p.Phe604Leu
ENST00000681998.1:c.1730T>C	ENSP00000506773.1:n.1730T>C
ENST00000682036.1:c.1150T>C	ENSP00000508390.1:p.Phe384Leu
ENST00000682577.1:c.1682T>C	ENSP00000506963.1:n.1682T>C
ENST00000682624.1:c.*1483T>C	ENSP00000508343.1:n.*1483T>C
ENST00000682700.1:c.1909T>C	ENSP00000507627.1:p.Phe637Leu
ENST00000682744.1:n.1447T>C
ENST00000682804.1:n.1732T>C
ENST00000682837.1:c.1398T>C	ENSP00000507920.1:n.1398T>C
ENST00000682935.1:n.3959T>C
ENST00000682984.1:c.1570T>C	ENSP00000507209.1:p.Phe524Leu
ENST00000683078.1:c.1664T>C	ENSP00000506796.1:n.1664T>C
ENST00000683223.1:c.1641T>C	ENSP00000507685.1:n.1641T>C
ENST00000683238.1:n.3133T>C
ENST00000683249.1:n.3506T>C
ENST00000683336.1:c.1730T>C	ENSP00000507695.1:n.1730T>C
ENST00000683362.1:c.1570T>C	ENSP00000506985.1:p.Phe524Leu
ENST00000683850.1:n.1832T>C
ENST00000683919.1:c.1839T>C	ENSP00000507617.1:n.1839T>C
ENST00000683953.1:c.1820T>C	ENSP00000508375.1:n.1820T>C
ENST00000684023.1:c.1886T>C	ENSP00000507461.1:n.1886T>C
ENST00000684064.1:c.1600T>C	ENSP00000508192.1:p.Phe534Leu
ENST00000684089.1:n.3459T>C
ENST00000684149.1:c.*1088T>C	ENSP00000507943.1:n.*1088T>C
ENST00000684343.1:c.106T>C	ENSP00000507591.1:p.Phe36Leu
ENST00000684416.1:n.1868T>C
ENST00000684540.1:c.1839T>C	ENSP00000507987.1:n.1839T>C
ENST00000453321.8:c.1909T>C MANE Select	ENSP00000389998.3:p.Phe637Leu
ENST00000323130.7:c.1879T>C	ENSP00000314488.3:p.Phe627Leu
ENST00000409623.7:c.1666T>C	ENSP00000386966.3:p.Phe556Leu
ENST00000453321.7:c.1909T>C	ENSP00000389998.3:p.Phe637Leu
ENST00000474944.5:n.1047T>C
ENST00000519845.5:n.641T>C
ENST00000523230.5:n.444T>C
NM_001142301.1:c.1666T>C , LRG_688t2:c.1666T>C	NP_001135773.1:p.Phe556Leu
NM_153704.5:c.1909T>C , LRG_688t1:c.1909T>C	NP_714915.3:p.Phe637Leu
NR_024522.1:n.1980T>C
XM_006716686.2:c.1606T>C	XP_006716749.1:p.Phe536Leu
XM_006716687.2:c.1309T>C	XP_006716750.1:p.Phe437Leu
XM_011517363.1:c.1027T>C	XP_011515665.1:p.Phe343Leu
XR_428387.1:n.1967T>C
XR_928360.1:n.1967T>C
XR_928361.1:n.1967T>C
XR_928362.1:n.1967T>C
XM_006716686.4:c.1606T>C	XP_006716749.1:p.Phe536Leu
XM_011517363.3:c.1027T>C	XP_011515665.1:p.Phe343Leu
XM_024447326.1:c.1255T>C	XP_024303094.1:p.Phe419Leu
XR_001745619.2:n.1950T>C
XR_428387.2:n.1950T>C
XR_928360.3:n.1950T>C
XR_928362.3:n.1950T>C
NM_153704.6:c.1909T>C MANE Select	NP_714915.3:p.Phe637Leu
NR_024522.2:n.1930T>C