Canonical Allele Identifier: CA371694097
Community Standard Title: NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93797456C>G , CM000670.2:g.93797456C>G GRCh38
NC_000008.10:g.94809684C>G , CM000670.1:g.94809684C>G GRCh37
NC_000008.9:g.94878860C>G NCBI36
NG_009190.1:g.47613C>G , LRG_688:g.47613C>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.2086C>G MANE Select NP_714915.3:p.Leu696Val
ENST00000453321.8:c.2086C>G MANE Select ENSP00000389998.3:p.Leu696Val
NM_001142301.1:c.1843C>G , LRG_688t2:c.1843C>G NP_001135773.1:p.Leu615Val
NM_153704.5:c.2086C>G , LRG_688t1:c.2086C>G NP_714915.3:p.Leu696Val
NR_024522.1:n.2157C>G
NR_024522.2:n.2107C>G
ENST00000323130.7:c.2056C>G ENSP00000314488.3:p.Leu686Val
ENST00000323130.8:c.2086C>G ENSP00000314488.4:p.Leu696Val
ENST00000409623.7:c.1843C>G ENSP00000386966.3:p.Leu615Val
ENST00000409623.8:c.2041C>G ENSP00000386966.4:p.Leu681Val
ENST00000452276.6:c.2086C>G ENSP00000388671.2:p.Leu696Val
ENST00000453321.7:c.2086C>G ENSP00000389998.3:p.Leu696Val
ENST00000453906.6:c.1204C>G ENSP00000403035.2:p.Leu402Val
ENST00000474944.5:n.1224C>G
ENST00000518896.2:c.377C>G ENSP00000507992.1:n.377C>G
ENST00000519845.5:n.818C>G
ENST00000520680.2:c.2209C>G ENSP00000428785.2:p.Leu737Val
ENST00000521517.6:c.1987C>G ENSP00000430740.2:p.Leu663Val
ENST00000681998.1:c.1907C>G ENSP00000506773.1:n.1907C>G
ENST00000682036.1:c.1327C>G ENSP00000508390.1:p.Leu443Val
ENST00000682577.1:c.1859C>G ENSP00000506963.1:n.1859C>G
ENST00000682624.1:c.*1660C>G ENSP00000508343.1:n.*1660C>G
ENST00000682700.1:c.2086C>G ENSP00000507627.1:p.Leu696Val
ENST00000682744.1:n.1624C>G
ENST00000682804.1:n.1909C>G
ENST00000682837.1:c.1575C>G ENSP00000507920.1:n.1575C>G
ENST00000682935.1:n.4136C>G
ENST00000682984.1:c.1747C>G ENSP00000507209.1:p.Leu583Val
ENST00000683078.1:c.1841C>G ENSP00000506796.1:n.1841C>G
ENST00000683223.1:c.1818C>G ENSP00000507685.1:n.1818C>G
ENST00000683238.1:n.3310C>G
ENST00000683249.1:n.3683C>G
ENST00000683336.1:c.1907C>G ENSP00000507695.1:n.1907C>G
ENST00000683362.1:c.1747C>G ENSP00000506985.1:p.Leu583Val
ENST00000683850.1:n.2009C>G
ENST00000683919.1:c.2016C>G ENSP00000507617.1:n.2016C>G
ENST00000683953.1:c.1997C>G ENSP00000508375.1:n.1997C>G
ENST00000684023.1:c.2063C>G ENSP00000507461.1:n.2063C>G
ENST00000684064.1:c.1777C>G ENSP00000508192.1:p.Leu593Val
ENST00000684089.1:n.3636C>G
ENST00000684149.1:c.*1265C>G ENSP00000507943.1:n.*1265C>G
ENST00000684343.1:c.283C>G ENSP00000507591.1:p.Leu95Val
ENST00000684416.1:n.2045C>G
ENST00000684540.1:c.2016C>G ENSP00000507987.1:n.2016C>G
XM_006716686.2:c.1783C>G XP_006716749.1:p.Leu595Val
XM_006716686.4:c.1783C>G XP_006716749.1:p.Leu595Val
XM_006716687.2:c.1486C>G XP_006716750.1:p.Leu496Val
XM_011517363.1:c.1204C>G XP_011515665.1:p.Leu402Val
XM_011517363.3:c.1204C>G XP_011515665.1:p.Leu402Val
XM_024447326.1:c.1432C>G XP_024303094.1:p.Leu478Val
XR_001745619.2:n.2127C>G
XR_428387.1:n.2144C>G
XR_428387.2:n.2127C>G
XR_928360.1:n.2144C>G
XR_928360.3:n.2127C>G
XR_928361.1:n.2144C>G
XR_928362.1:n.2144C>G
XR_928362.3:n.2127C>G