Canonical Allele Identifier: CA150984
Community Standard Title: NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93786243C>G , CM000670.2:g.93786243C>G GRCh38
NC_000008.10:g.94798471C>G , CM000670.1:g.94798471C>G GRCh37
NC_000008.9:g.94867647C>G NCBI36
NG_009190.1:g.36400C>G , LRG_688:g.36400C>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.1309C>G MANE Select NP_714915.3:p.Leu437Val
ENST00000453321.8:c.1309C>G MANE Select ENSP00000389998.3:p.Leu437Val
NM_001142301.1:c.1066C>G , LRG_688t2:c.1066C>G NP_001135773.1:p.Leu356Val
NM_153704.5:c.1309C>G , LRG_688t1:c.1309C>G NP_714915.3:p.Leu437Val
NR_024522.1:n.1380C>G
NR_024522.2:n.1330C>G
ENST00000323130.7:c.1279C>G ENSP00000314488.3:p.Leu427Val
ENST00000323130.8:c.1309C>G ENSP00000314488.4:p.Leu437Val
ENST00000409623.7:c.1066C>G ENSP00000386966.3:p.Leu356Val
ENST00000409623.8:c.1289-25C>G ENSP00000386966.4:n.1289-25C>G
ENST00000452276.5:c.1000C>G ENSP00000388671.1:p.Leu334Val
ENST00000452276.6:c.1309C>G ENSP00000388671.2:p.Leu437Val
ENST00000453321.7:c.1309C>G ENSP00000389998.3:p.Leu437Val
ENST00000453906.5:c.427C>G ENSP00000403035.1:p.Leu143Val
ENST00000453906.6:c.427C>G ENSP00000403035.2:p.Leu143Val
ENST00000474944.5:n.447C>G
ENST00000520680.1:c.131C>G
ENST00000520680.2:c.1309C>G ENSP00000428785.2:p.Leu437Val
ENST00000521517.6:c.1309C>G ENSP00000430740.2:p.Leu437Val
ENST00000681998.1:c.1130C>G ENSP00000506773.1:n.1130C>G
ENST00000682036.1:c.427C>G ENSP00000508390.1:p.Leu143Val
ENST00000682577.1:c.1082C>G ENSP00000506963.1:n.1082C>G
ENST00000682624.1:c.*883C>G ENSP00000508343.1:n.*883C>G
ENST00000682700.1:c.1309C>G ENSP00000507627.1:p.Leu437Val
ENST00000682744.1:n.847C>G
ENST00000682804.1:n.1132C>G
ENST00000682837.1:c.798C>G ENSP00000507920.1:n.798C>G
ENST00000682935.1:n.3359C>G
ENST00000682984.1:c.970C>G ENSP00000507209.1:p.Leu324Val
ENST00000683078.1:c.1064C>G ENSP00000506796.1:n.1064C>G
ENST00000683223.1:c.1041C>G ENSP00000507685.1:n.1041C>G
ENST00000683238.1:n.2533C>G
ENST00000683249.1:n.2906C>G
ENST00000683336.1:c.1130C>G ENSP00000507695.1:n.1130C>G
ENST00000683362.1:c.970C>G ENSP00000506985.1:p.Leu324Val
ENST00000683850.1:n.1232C>G
ENST00000683919.1:c.1239C>G ENSP00000507617.1:n.1239C>G
ENST00000683953.1:c.1220C>G ENSP00000508375.1:n.1220C>G
ENST00000684023.1:c.1286C>G ENSP00000507461.1:n.1286C>G
ENST00000684064.1:c.1000C>G ENSP00000508192.1:p.Leu334Val
ENST00000684089.1:n.2859C>G
ENST00000684149.1:c.*488C>G ENSP00000507943.1:n.*488C>G
ENST00000684416.1:n.1268C>G
ENST00000684540.1:c.1239C>G ENSP00000507987.1:n.1239C>G
XM_006716686.2:c.1006C>G XP_006716749.1:p.Leu336Val
XM_006716686.4:c.1006C>G XP_006716749.1:p.Leu336Val
XM_006716687.2:c.709C>G XP_006716750.1:p.Leu237Val
XM_011517363.1:c.427C>G XP_011515665.1:p.Leu143Val
XM_011517363.3:c.427C>G XP_011515665.1:p.Leu143Val
XM_024447326.1:c.655C>G XP_024303094.1:p.Leu219Val
XR_001745619.2:n.1350C>G
XR_428387.1:n.1367C>G
XR_428387.2:n.1350C>G
XR_928360.1:n.1367C>G
XR_928360.3:n.1350C>G
XR_928361.1:n.1367C>G
XR_928362.1:n.1367C>G
XR_928362.3:n.1350C>G