Canonical Allele Identifier: CA371689443
Community Standard Title: NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93785337T>A , CM000670.2:g.93785337T>A GRCh38
NC_000008.10:g.94797565T>A , CM000670.1:g.94797565T>A GRCh37
NC_000008.9:g.94866741T>A NCBI36
NG_009190.1:g.35494T>A , LRG_688:g.35494T>A

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.1247T>A MANE Select NP_714915.3:p.Leu416Ter
ENST00000453321.8:c.1247T>A MANE Select ENSP00000389998.3:p.Leu416Ter
NM_001142301.1:c.1004T>A , LRG_688t2:c.1004T>A NP_001135773.1:p.Leu335Ter
NM_153704.5:c.1247T>A , LRG_688t1:c.1247T>A NP_714915.3:p.Leu416Ter
NR_024522.1:n.1318T>A
NR_024522.2:n.1268T>A
ENST00000323130.7:c.1217T>A ENSP00000314488.3:p.Leu406Ter
ENST00000323130.8:c.1247T>A ENSP00000314488.4:p.Leu416Ter
ENST00000409623.7:c.1004T>A ENSP00000386966.3:p.Leu335Ter
ENST00000409623.8:c.1247T>A ENSP00000386966.4:p.Leu416Ter
ENST00000452276.5:c.938T>A ENSP00000388671.1:p.Leu313Ter
ENST00000452276.6:c.1247T>A ENSP00000388671.2:p.Leu416Ter
ENST00000453321.7:c.1247T>A ENSP00000389998.3:p.Leu416Ter
ENST00000453906.5:c.407-886T>A ENSP00000403035.1:n.407-886T>A
ENST00000453906.6:c.407-886T>A ENSP00000403035.2:n.407-886T>A
ENST00000474944.5:n.427-886T>A
ENST00000520634.1:n.116T>A
ENST00000520680.1:c.69T>A
ENST00000520680.2:c.1247T>A ENSP00000428785.2:p.Leu416Ter
ENST00000521517.6:c.1247T>A ENSP00000430740.2:p.Leu416Ter
ENST00000681998.1:c.1068T>A ENSP00000506773.1:n.1068T>A
ENST00000682036.1:c.407-886T>A ENSP00000508390.1:n.407-886T>A
ENST00000682577.1:c.1062-886T>A ENSP00000506963.1:n.1062-886T>A
ENST00000682624.1:c.*821T>A ENSP00000508343.1:n.*821T>A
ENST00000682700.1:c.1247T>A ENSP00000507627.1:p.Leu416Ter
ENST00000682744.1:n.785T>A
ENST00000682804.1:n.1070T>A
ENST00000682837.1:c.778-886T>A ENSP00000507920.1:n.778-886T>A
ENST00000682935.1:n.2807T>A
ENST00000682984.1:c.908T>A ENSP00000507209.1:p.Leu303Ter
ENST00000683078.1:c.1002T>A ENSP00000506796.1:n.1002T>A
ENST00000683223.1:c.979T>A ENSP00000507685.1:n.979T>A
ENST00000683238.1:n.2513-886T>A
ENST00000683249.1:n.2844T>A
ENST00000683336.1:c.1068T>A ENSP00000507695.1:n.1068T>A
ENST00000683362.1:c.908T>A ENSP00000506985.1:p.Leu303Ter
ENST00000683850.1:n.1170T>A
ENST00000683919.1:c.1177T>A ENSP00000507617.1:n.1177T>A
ENST00000683953.1:c.1158T>A ENSP00000508375.1:n.1158T>A
ENST00000684023.1:c.1266-886T>A ENSP00000507461.1:n.1266-886T>A
ENST00000684064.1:c.938T>A ENSP00000508192.1:p.Leu313Ter
ENST00000684089.1:n.2797T>A
ENST00000684149.1:c.*468-886T>A ENSP00000507943.1:n.*468-886T>A
ENST00000684416.1:n.1206T>A
ENST00000684540.1:c.1177T>A ENSP00000507987.1:n.1177T>A
XM_006716686.2:c.944T>A XP_006716749.1:p.Leu315Ter
XM_006716686.4:c.944T>A XP_006716749.1:p.Leu315Ter
XM_006716687.2:c.647T>A XP_006716750.1:p.Leu216Ter
XM_011517363.1:c.407-886T>A XP_011515665.1:n.407-886T>A
XM_011517363.3:c.407-886T>A XP_011515665.1:n.407-886T>A
XM_024447326.1:c.593T>A XP_024303094.1:p.Leu198Ter
XR_001745619.2:n.1288T>A
XR_428387.1:n.1305T>A
XR_428387.2:n.1288T>A
XR_928360.1:n.1305T>A
XR_928360.3:n.1288T>A
XR_928361.1:n.1305T>A
XR_928362.1:n.1305T>A
XR_928362.3:n.1288T>A