Canonical Allele Identifier: CA2742038368
Community Standard Title: NM_153704.6(TMEM67):c.[1634G>A;2241G>A] (p.Gly545Glu)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.[93793256G>A;93799758G>A] , CM000670.2:g.[93793256G>A;93799758G>A] GRCh38
NC_000008.10:g.[94805484G>A;94811986G>A] , CM000670.1:g.[94805484G>A;94811986G>A] GRCh37
NC_000008.9:g.[94874660G>A;94881162G>A] NCBI36
NG_009190.1:g.[43413G>A;49915G>A] , LRG_688:g.[43413G>A;49915G>A]

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.[1634G>A;2241G>A] MANE Select NP_714915.3:p.[Gly545Glu;Gln747=]
ENST00000453321.8:c.[1634G>A;2241G>A] MANE Select ENSP00000389998.3:p.[Gly545Glu;Gln747=]
NM_001142301.1:c.[1391G>A;1998G>A] , LRG_688t2:c.[1391G>A;1998G>A] NP_001135773.1:p.[Gly464Glu;Gln666=]
NM_153704.5:c.[1634G>A;2241G>A] , LRG_688t1:c.[1634G>A;2241G>A] NP_714915.3:p.[Gly545Glu;Gln747=]
NR_024522.1:n.[1705G>A;2312G>A]
NR_024522.2:n.[1655G>A;2262G>A]
ENST00000323130.7:c.[1604G>A;2211G>A] ENSP00000314488.3:p.[Gly535Glu;Gln737=]
ENST00000323130.8:c.[1634G>A;2241G>A] ENSP00000314488.4:p.[Gly545Glu;Gln747=]
ENST00000409623.7:c.[1391G>A;1998G>A] ENSP00000386966.3:p.[Gly464Glu;Gln666=]
ENST00000409623.8:c.[1589G>A;2196G>A] ENSP00000386966.4:p.[Gly530Glu;Gln732=]
ENST00000452276.6:c.[1634G>A;2241G>A] ENSP00000388671.2:p.[Gly545Glu;Gln747=]
ENST00000453321.7:c.[1634G>A;2241G>A] ENSP00000389998.3:p.[Gly545Glu;Gln747=]
ENST00000453906.6:c.[752G>A;1359G>A] ENSP00000403035.2:p.[Gly251Glu;Gln453=]
ENST00000474944.5:n.[772G>A;1379G>A]
ENST00000520680.2:c.[1757G>A;2364G>A] ENSP00000428785.2:p.[Gly586Glu;Gln788=]
ENST00000521517.6:c.[1634G>A;2142G>A] ENSP00000430740.2:p.[Gly545Glu;Gln714=]
ENST00000681998.1:c.[1455G>A;2062G>A] ENSP00000506773.1:n.[1455G>A;2062G>A]
ENST00000682036.1:c.[875G>A;1482G>A] ENSP00000508390.1:p.[Gly292Glu;Gln494=]
ENST00000682577.1:c.[1407G>A;2014G>A] ENSP00000506963.1:n.[1407G>A;2014G>A]
ENST00000682624.1:c.[*1208G>A;*1815G>A] ENSP00000508343.1:n.[*1208G>A;*1815G>A]
ENST00000682700.1:c.[1634G>A;2241G>A] ENSP00000507627.1:p.[Gly545Glu;Gln747=]
ENST00000682744.1:n.[1172G>A;1779G>A]
ENST00000682804.1:n.[1457G>A;2064G>A]
ENST00000682837.1:c.[1123G>A;1730G>A] ENSP00000507920.1:n.[1123G>A;1730G>A]
ENST00000682935.1:n.[3684G>A;4291G>A]
ENST00000682984.1:c.[1295G>A;1902G>A] ENSP00000507209.1:p.[Gly432Glu;Gln634=]
ENST00000683078.1:c.[1389G>A;1996G>A] ENSP00000506796.1:n.[1389G>A;1996G>A]
ENST00000683223.1:c.[1366G>A;1973G>A] ENSP00000507685.1:n.[1366G>A;1973G>A]
ENST00000683238.1:n.[2858G>A;3465G>A]
ENST00000683249.1:n.[3231G>A;3838G>A]
ENST00000683336.1:c.[1455G>A;2062G>A] ENSP00000507695.1:n.[1455G>A;2062G>A]
ENST00000683362.1:c.[1295G>A;1902G>A] ENSP00000506985.1:p.[Gly432Glu;Gln634=]
ENST00000683850.1:n.[1557G>A;2164G>A]
ENST00000683919.1:c.[1564G>A;2171G>A] ENSP00000507617.1:n.[1564G>A;2171G>A]
ENST00000683953.1:c.[1545G>A;2152G>A] ENSP00000508375.1:n.[1545G>A;2152G>A]
ENST00000684023.1:c.[1611G>A;2218G>A] ENSP00000507461.1:n.[1611G>A;2218G>A]
ENST00000684064.1:c.[1325G>A;1932G>A] ENSP00000508192.1:p.[Gly442Glu;Gln644=]
ENST00000684089.1:n.[3184G>A;3791G>A]
ENST00000684149.1:c.[*813G>A;*1420G>A] ENSP00000507943.1:n.[*813G>A;*1420G>A]
ENST00000684416.1:n.[1593G>A;2200G>A]
ENST00000684540.1:c.[1564G>A;2171G>A] ENSP00000507987.1:n.[1564G>A;2171G>A]
XM_006716686.2:c.[1331G>A;1938G>A] XP_006716749.1:p.[Gly444Glu;Gln646=]
XM_006716686.4:c.[1331G>A;1938G>A] XP_006716749.1:p.[Gly444Glu;Gln646=]
XM_006716687.2:c.[1034G>A;1641G>A] XP_006716750.1:p.[Gly345Glu;Gln547=]
XM_011517363.1:c.[752G>A;1359G>A] XP_011515665.1:p.[Gly251Glu;Gln453=]
XM_011517363.3:c.[752G>A;1359G>A] XP_011515665.1:p.[Gly251Glu;Gln453=]
XM_024447326.1:c.[980G>A;1587G>A] XP_024303094.1:p.[Gly327Glu;Gln529=]
XR_001745619.2:n.[1675G>A;2282G>A]
XR_428387.1:n.[1692G>A;2299G>A]
XR_428387.2:n.[1675G>A;2282G>A]
XR_928360.1:n.[1692G>A;2299G>A]
XR_928360.3:n.[1675G>A;2282G>A]
XR_928361.1:n.[1692G>A;2299G>A]
XR_928362.1:n.[1692G>A;2299G>A]
XR_928362.3:n.[1675G>A;2282G>A]