Canonical Allele Identifier: CA371691352

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93793260G>A , CM000670.2:g.93793260G>A	GRCh38
NC_000008.10:g.94805488G>A , CM000670.1:g.94805488G>A	GRCh37
NC_000008.9:g.94874664G>A	NCBI36
NG_009190.1:g.43417G>A , LRG_688:g.43417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.1638G>A MANE Select	NP_714915.3:p.Trp546Ter
ENST00000453321.8:c.1638G>A MANE Select	ENSP00000389998.3:p.Trp546Ter
NM_001142301.1:c.1395G>A , LRG_688t2:c.1395G>A	NP_001135773.1:p.Trp465Ter
NM_153704.5:c.1638G>A , LRG_688t1:c.1638G>A	NP_714915.3:p.Trp546Ter
NR_024522.1:n.1709G>A
NR_024522.2:n.1659G>A
ENST00000323130.7:c.1608G>A	ENSP00000314488.3:p.Trp536Ter
ENST00000323130.8:c.1638G>A	ENSP00000314488.4:p.Trp546Ter
ENST00000409623.7:c.1395G>A	ENSP00000386966.3:p.Trp465Ter
ENST00000409623.8:c.1593G>A	ENSP00000386966.4:p.Trp531Ter
ENST00000452276.6:c.1638G>A	ENSP00000388671.2:p.Trp546Ter
ENST00000453321.7:c.1638G>A	ENSP00000389998.3:p.Trp546Ter
ENST00000453906.6:c.756G>A	ENSP00000403035.2:p.Trp252Ter
ENST00000474944.5:n.776G>A
ENST00000520680.1:c.583G>A
ENST00000520680.2:c.1761G>A	ENSP00000428785.2:p.Trp587Ter
ENST00000521517.6:c.1638G>A	ENSP00000430740.2:p.Trp546Ter
ENST00000523230.5:n.173G>A
ENST00000681998.1:c.1459G>A	ENSP00000506773.1:n.1459G>A
ENST00000682036.1:c.879G>A	ENSP00000508390.1:p.Trp293Ter
ENST00000682577.1:c.1411G>A	ENSP00000506963.1:n.1411G>A
ENST00000682624.1:c.*1212G>A	ENSP00000508343.1:n.*1212G>A
ENST00000682700.1:c.1638G>A	ENSP00000507627.1:p.Trp546Ter
ENST00000682744.1:n.1176G>A
ENST00000682804.1:n.1461G>A
ENST00000682837.1:c.1127G>A	ENSP00000507920.1:n.1127G>A
ENST00000682935.1:n.3688G>A
ENST00000682984.1:c.1299G>A	ENSP00000507209.1:p.Trp433Ter
ENST00000683078.1:c.1393G>A	ENSP00000506796.1:n.1393G>A
ENST00000683223.1:c.1370G>A	ENSP00000507685.1:n.1370G>A
ENST00000683238.1:n.2862G>A
ENST00000683249.1:n.3235G>A
ENST00000683336.1:c.1459G>A	ENSP00000507695.1:n.1459G>A
ENST00000683362.1:c.1299G>A	ENSP00000506985.1:p.Trp433Ter
ENST00000683850.1:n.1561G>A
ENST00000683919.1:c.1568G>A	ENSP00000507617.1:n.1568G>A
ENST00000683953.1:c.1549G>A	ENSP00000508375.1:n.1549G>A
ENST00000684023.1:c.1615G>A	ENSP00000507461.1:n.1615G>A
ENST00000684064.1:c.1329G>A	ENSP00000508192.1:p.Trp443Ter
ENST00000684089.1:n.3188G>A
ENST00000684149.1:c.*817G>A	ENSP00000507943.1:n.*817G>A
ENST00000684416.1:n.1597G>A
ENST00000684540.1:c.1568G>A	ENSP00000507987.1:n.1568G>A
XM_006716686.2:c.1335G>A	XP_006716749.1:p.Trp445Ter
XM_006716686.4:c.1335G>A	XP_006716749.1:p.Trp445Ter
XM_006716687.2:c.1038G>A	XP_006716750.1:p.Trp346Ter
XM_011517363.1:c.756G>A	XP_011515665.1:p.Trp252Ter
XM_011517363.3:c.756G>A	XP_011515665.1:p.Trp252Ter
XM_024447326.1:c.984G>A	XP_024303094.1:p.Trp328Ter
XR_001745619.2:n.1679G>A
XR_428387.1:n.1696G>A
XR_428387.2:n.1679G>A
XR_928360.1:n.1696G>A
XR_928360.3:n.1679G>A
XR_928361.1:n.1696G>A
XR_928362.1:n.1696G>A
XR_928362.3:n.1679G>A