Canonical Allele Identifier: CA4808064

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93795468C>T , CM000670.2:g.93795468C>T	GRCh38
NC_000008.10:g.94807696C>T , CM000670.1:g.94807696C>T	GRCh37
NC_000008.9:g.94876872C>T	NCBI36
NG_009190.1:g.45625C>T , LRG_688:g.45625C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1734C>T MANE Select	NP_714915.3:p.Ile578=
ENST00000453321.8:c.1734C>T MANE Select	ENSP00000389998.3:p.Ile578=
NM_001142301.1:c.1491C>T , LRG_688t2:c.1491C>T	NP_001135773.1:p.Ile497=
NM_153704.5:c.1734C>T , LRG_688t1:c.1734C>T	NP_714915.3:p.Ile578=
NR_024522.1:n.1805C>T
NR_024522.2:n.1755C>T
ENST00000323130.7:c.1704C>T	ENSP00000314488.3:p.Ile568=
ENST00000323130.8:c.1734C>T	ENSP00000314488.4:p.Ile578=
ENST00000409623.7:c.1491C>T	ENSP00000386966.3:p.Ile497=
ENST00000409623.8:c.1689C>T	ENSP00000386966.4:p.Ile563=
ENST00000452276.6:c.1734C>T	ENSP00000388671.2:p.Ile578=
ENST00000453321.7:c.1734C>T	ENSP00000389998.3:p.Ile578=
ENST00000453906.6:c.852C>T	ENSP00000403035.2:p.Ile284=
ENST00000474944.5:n.872C>T
ENST00000519845.5:n.466C>T
ENST00000520680.1:c.679C>T
ENST00000520680.2:c.1857C>T	ENSP00000428785.2:p.Ile619=
ENST00000521517.6:c.1675-433C>T	ENSP00000430740.2:n.1675-433C>T
ENST00000523230.5:n.269C>T
ENST00000681998.1:c.1555C>T	ENSP00000506773.1:n.1555C>T
ENST00000682036.1:c.975C>T	ENSP00000508390.1:p.Ile325=
ENST00000682577.1:c.1507C>T	ENSP00000506963.1:n.1507C>T
ENST00000682624.1:c.*1308C>T	ENSP00000508343.1:n.*1308C>T
ENST00000682700.1:c.1734C>T	ENSP00000507627.1:p.Ile578=
ENST00000682744.1:n.1272C>T
ENST00000682804.1:n.1557C>T
ENST00000682837.1:c.1223C>T	ENSP00000507920.1:n.1223C>T
ENST00000682935.1:n.3784C>T
ENST00000682984.1:c.1395C>T	ENSP00000507209.1:p.Ile465=
ENST00000683078.1:c.1489C>T	ENSP00000506796.1:n.1489C>T
ENST00000683223.1:c.1466C>T	ENSP00000507685.1:n.1466C>T
ENST00000683238.1:n.2958C>T
ENST00000683249.1:n.3331C>T
ENST00000683336.1:c.1555C>T	ENSP00000507695.1:n.1555C>T
ENST00000683362.1:c.1395C>T	ENSP00000506985.1:p.Ile465=
ENST00000683850.1:n.1657C>T
ENST00000683919.1:c.1664C>T	ENSP00000507617.1:n.1664C>T
ENST00000683953.1:c.1645C>T	ENSP00000508375.1:n.1645C>T
ENST00000684023.1:c.1711C>T	ENSP00000507461.1:n.1711C>T
ENST00000684064.1:c.1425C>T	ENSP00000508192.1:p.Ile475=
ENST00000684089.1:n.3284C>T
ENST00000684149.1:c.*913C>T	ENSP00000507943.1:n.*913C>T
ENST00000684343.1:c.-70C>T	ENSP00000507591.1:n.-70C>T
ENST00000684416.1:n.1693C>T
ENST00000684540.1:c.1664C>T	ENSP00000507987.1:n.1664C>T
XM_006716686.2:c.1431C>T	XP_006716749.1:p.Ile477=
XM_006716686.4:c.1431C>T	XP_006716749.1:p.Ile477=
XM_006716687.2:c.1134C>T	XP_006716750.1:p.Ile378=
XM_011517363.1:c.852C>T	XP_011515665.1:p.Ile284=
XM_011517363.3:c.852C>T	XP_011515665.1:p.Ile284=
XM_024447326.1:c.1080C>T	XP_024303094.1:p.Ile360=
XR_001745619.2:n.1775C>T
XR_428387.1:n.1792C>T
XR_428387.2:n.1775C>T
XR_928360.1:n.1792C>T
XR_928360.3:n.1775C>T
XR_928361.1:n.1792C>T
XR_928362.1:n.1792C>T
XR_928362.3:n.1775C>T