Canonical Allele Identifier: CA371693291

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94809412C>G (hg19) ; chr8:g.93797184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93797184C>G , CM000670.2:g.93797184C>G	GRCh38
NC_000008.10:g.94809412C>G , CM000670.1:g.94809412C>G	GRCh37
NC_000008.9:g.94878588C>G	NCBI36
NG_009190.1:g.47341C>G , LRG_688:g.47341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1911C>G	ENSP00000314488.4:p.Phe637Leu
ENST00000409623.8:c.1866C>G	ENSP00000386966.4:p.Phe622Leu
ENST00000452276.6:c.1911C>G	ENSP00000388671.2:p.Phe637Leu
ENST00000453906.6:c.1029C>G	ENSP00000403035.2:p.Phe343Leu
ENST00000518896.2:c.202C>G	ENSP00000507992.1:n.202C>G
ENST00000520680.2:c.2034C>G	ENSP00000428785.2:p.Phe678Leu
ENST00000521517.6:c.1812C>G	ENSP00000430740.2:p.Phe604Leu
ENST00000681998.1:c.1732C>G	ENSP00000506773.1:n.1732C>G
ENST00000682036.1:c.1152C>G	ENSP00000508390.1:p.Phe384Leu
ENST00000682577.1:c.1684C>G	ENSP00000506963.1:n.1684C>G
ENST00000682624.1:c.*1485C>G	ENSP00000508343.1:n.*1485C>G
ENST00000682700.1:c.1911C>G	ENSP00000507627.1:p.Phe637Leu
ENST00000682744.1:n.1449C>G
ENST00000682804.1:n.1734C>G
ENST00000682837.1:c.1400C>G	ENSP00000507920.1:n.1400C>G
ENST00000682935.1:n.3961C>G
ENST00000682984.1:c.1572C>G	ENSP00000507209.1:p.Phe524Leu
ENST00000683078.1:c.1666C>G	ENSP00000506796.1:n.1666C>G
ENST00000683223.1:c.1643C>G	ENSP00000507685.1:n.1643C>G
ENST00000683238.1:n.3135C>G
ENST00000683249.1:n.3508C>G
ENST00000683336.1:c.1732C>G	ENSP00000507695.1:n.1732C>G
ENST00000683362.1:c.1572C>G	ENSP00000506985.1:p.Phe524Leu
ENST00000683850.1:n.1834C>G
ENST00000683919.1:c.1841C>G	ENSP00000507617.1:n.1841C>G
ENST00000683953.1:c.1822C>G	ENSP00000508375.1:n.1822C>G
ENST00000684023.1:c.1888C>G	ENSP00000507461.1:n.1888C>G
ENST00000684064.1:c.1602C>G	ENSP00000508192.1:p.Phe534Leu
ENST00000684089.1:n.3461C>G
ENST00000684149.1:c.*1090C>G	ENSP00000507943.1:n.*1090C>G
ENST00000684343.1:c.108C>G	ENSP00000507591.1:p.Phe36Leu
ENST00000684416.1:n.1870C>G
ENST00000684540.1:c.1841C>G	ENSP00000507987.1:n.1841C>G
ENST00000453321.8:c.1911C>G MANE Select	ENSP00000389998.3:p.Phe637Leu
ENST00000323130.7:c.1881C>G	ENSP00000314488.3:p.Phe627Leu
ENST00000409623.7:c.1668C>G	ENSP00000386966.3:p.Phe556Leu
ENST00000453321.7:c.1911C>G	ENSP00000389998.3:p.Phe637Leu
ENST00000474944.5:n.1049C>G
ENST00000519845.5:n.643C>G
ENST00000523230.5:n.446C>G
NM_001142301.1:c.1668C>G , LRG_688t2:c.1668C>G	NP_001135773.1:p.Phe556Leu
NM_153704.5:c.1911C>G , LRG_688t1:c.1911C>G	NP_714915.3:p.Phe637Leu
NR_024522.1:n.1982C>G
XM_006716686.2:c.1608C>G	XP_006716749.1:p.Phe536Leu
XM_006716687.2:c.1311C>G	XP_006716750.1:p.Phe437Leu
XM_011517363.1:c.1029C>G	XP_011515665.1:p.Phe343Leu
XR_428387.1:n.1969C>G
XR_928360.1:n.1969C>G
XR_928361.1:n.1969C>G
XR_928362.1:n.1969C>G
XM_006716686.4:c.1608C>G	XP_006716749.1:p.Phe536Leu
XM_011517363.3:c.1029C>G	XP_011515665.1:p.Phe343Leu
XM_024447326.1:c.1257C>G	XP_024303094.1:p.Phe419Leu
XR_001745619.2:n.1952C>G
XR_428387.2:n.1952C>G
XR_928360.3:n.1952C>G
XR_928362.3:n.1952C>G
NM_153704.6:c.1911C>G MANE Select	NP_714915.3:p.Phe637Leu
NR_024522.2:n.1932C>G