Canonical Allele Identifier: CA371692500
Community Standard Title: NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93795505A>G , CM000670.2:g.93795505A>G GRCh38
NC_000008.10:g.94807733A>G , CM000670.1:g.94807733A>G GRCh37
NC_000008.9:g.94876909A>G NCBI36
NG_009190.1:g.45662A>G , LRG_688:g.45662A>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.1771A>G MANE Select NP_714915.3:p.Lys591Glu
ENST00000453321.8:c.1771A>G MANE Select ENSP00000389998.3:p.Lys591Glu
NM_001142301.1:c.1528A>G , LRG_688t2:c.1528A>G NP_001135773.1:p.Lys510Glu
NM_153704.5:c.1771A>G , LRG_688t1:c.1771A>G NP_714915.3:p.Lys591Glu
NR_024522.1:n.1842A>G
NR_024522.2:n.1792A>G
ENST00000323130.7:c.1741A>G ENSP00000314488.3:p.Lys581Glu
ENST00000323130.8:c.1771A>G ENSP00000314488.4:p.Lys591Glu
ENST00000409623.7:c.1528A>G ENSP00000386966.3:p.Lys510Glu
ENST00000409623.8:c.1726A>G ENSP00000386966.4:p.Lys576Glu
ENST00000452276.6:c.1771A>G ENSP00000388671.2:p.Lys591Glu
ENST00000453321.7:c.1771A>G ENSP00000389998.3:p.Lys591Glu
ENST00000453906.6:c.889A>G ENSP00000403035.2:p.Lys297Glu
ENST00000474944.5:n.909A>G
ENST00000518896.2:c.37A>G ENSP00000507992.1:p.Lys13Glu
ENST00000519845.5:n.503A>G
ENST00000520680.2:c.1894A>G ENSP00000428785.2:p.Lys632Glu
ENST00000521517.6:c.1675-396A>G ENSP00000430740.2:n.1675-396A>G
ENST00000523230.5:n.306A>G
ENST00000681998.1:c.1592A>G ENSP00000506773.1:n.1592A>G
ENST00000682036.1:c.1012A>G ENSP00000508390.1:p.Lys338Glu
ENST00000682577.1:c.1544A>G ENSP00000506963.1:n.1544A>G
ENST00000682624.1:c.*1345A>G ENSP00000508343.1:n.*1345A>G
ENST00000682700.1:c.1771A>G ENSP00000507627.1:p.Lys591Glu
ENST00000682744.1:n.1309A>G
ENST00000682804.1:n.1594A>G
ENST00000682837.1:c.1260A>G ENSP00000507920.1:n.1260A>G
ENST00000682935.1:n.3821A>G
ENST00000682984.1:c.1432A>G ENSP00000507209.1:p.Lys478Glu
ENST00000683078.1:c.1526A>G ENSP00000506796.1:n.1526A>G
ENST00000683223.1:c.1503A>G ENSP00000507685.1:n.1503A>G
ENST00000683238.1:n.2995A>G
ENST00000683249.1:n.3368A>G
ENST00000683336.1:c.1592A>G ENSP00000507695.1:n.1592A>G
ENST00000683362.1:c.1432A>G ENSP00000506985.1:p.Lys478Glu
ENST00000683850.1:n.1694A>G
ENST00000683919.1:c.1701A>G ENSP00000507617.1:n.1701A>G
ENST00000683953.1:c.1682A>G ENSP00000508375.1:n.1682A>G
ENST00000684023.1:c.1748A>G ENSP00000507461.1:n.1748A>G
ENST00000684064.1:c.1462A>G ENSP00000508192.1:p.Lys488Glu
ENST00000684089.1:n.3321A>G
ENST00000684149.1:c.*950A>G ENSP00000507943.1:n.*950A>G
ENST00000684343.1:c.-33A>G ENSP00000507591.1:n.-33A>G
ENST00000684416.1:n.1730A>G
ENST00000684540.1:c.1701A>G ENSP00000507987.1:n.1701A>G
XM_006716686.2:c.1468A>G XP_006716749.1:p.Lys490Glu
XM_006716686.4:c.1468A>G XP_006716749.1:p.Lys490Glu
XM_006716687.2:c.1171A>G XP_006716750.1:p.Lys391Glu
XM_011517363.1:c.889A>G XP_011515665.1:p.Lys297Glu
XM_011517363.3:c.889A>G XP_011515665.1:p.Lys297Glu
XM_024447326.1:c.1117A>G XP_024303094.1:p.Lys373Glu
XR_001745619.2:n.1812A>G
XR_428387.1:n.1829A>G
XR_428387.2:n.1812A>G
XR_928360.1:n.1829A>G
XR_928360.3:n.1812A>G
XR_928361.1:n.1829A>G
XR_928362.1:n.1829A>G
XR_928362.3:n.1812A>G