Canonical Allele Identifier: CA371686349

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 431704
• ClinVar RCV Id: RCV000655938
• dbSNP Id: rs1554615516
• MyVariant Identifiers: chr8:g.94776102C>T (hg19) ; chr8:g.93763874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93763874C>T , CM000670.2:g.93763874C>T	GRCh38
NC_000008.10:g.94776102C>T , CM000670.1:g.94776102C>T	GRCh37
NC_000008.9:g.94845278C>T	NCBI36
NG_009190.1:g.14031C>T , LRG_688:g.14031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.439C>T	ENSP00000314488.4:p.Gln147Ter
ENST00000409623.8:c.439C>T	ENSP00000386966.4:p.Gln147Ter
ENST00000452276.6:c.439C>T	ENSP00000388671.2:p.Gln147Ter
ENST00000453906.6:c.406+5298C>T	ENSP00000403035.2:n.406+5298C>T
ENST00000520680.2:c.439C>T	ENSP00000428785.2:p.Gln147Ter
ENST00000521065.2:c.*156C>T	ENSP00000427947.2:n.*156C>T
ENST00000521517.6:c.439C>T	ENSP00000430740.2:p.Gln147Ter
ENST00000681998.1:c.439C>T	ENSP00000506773.1:p.Gln147Ter
ENST00000682036.1:c.406+5298C>T	ENSP00000508390.1:n.406+5298C>T
ENST00000682577.1:c.439C>T	ENSP00000506963.1:p.Gln147Ter
ENST00000682624.1:c.*83C>T	ENSP00000508343.1:n.*83C>T
ENST00000682700.1:c.439C>T	ENSP00000507627.1:p.Gln147Ter
ENST00000682804.1:n.332C>T
ENST00000682837.1:c.406+5298C>T	ENSP00000507920.1:n.406+5298C>T
ENST00000682935.1:n.439C>T
ENST00000682984.1:c.312+8008C>T	ENSP00000507209.1:n.312+8008C>T
ENST00000683078.1:c.406+5298C>T	ENSP00000506796.1:n.406+5298C>T
ENST00000683223.1:c.350C>T	ENSP00000507685.1:n.350C>T
ENST00000683238.1:n.260C>T
ENST00000683249.1:n.460C>T
ENST00000683336.1:c.439C>T	ENSP00000507695.1:p.Gln147Ter
ENST00000683362.1:c.312+8008C>T	ENSP00000506985.1:n.312+8008C>T
ENST00000683850.1:n.362C>T
ENST00000683919.1:c.439C>T	ENSP00000507617.1:p.Gln147Ter
ENST00000683953.1:c.350C>T	ENSP00000508375.1:n.350C>T
ENST00000684023.1:c.573C>T	ENSP00000507461.1:n.573C>T
ENST00000684064.1:c.130C>T	ENSP00000508192.1:p.Gln44Ter
ENST00000684089.1:n.429C>T
ENST00000684149.1:c.439C>T	ENSP00000507943.1:p.Gln147Ter
ENST00000684416.1:n.398C>T
ENST00000684540.1:c.439C>T	ENSP00000507987.1:p.Gln147Ter
ENST00000453321.8:c.439C>T MANE Select	ENSP00000389998.3:p.Gln147Ter
ENST00000323130.7:c.409C>T	ENSP00000314488.3:p.Gln137Ter
ENST00000409623.7:c.196C>T	ENSP00000386966.3:p.Gln66Ter
ENST00000452276.5:c.130C>T	ENSP00000388671.1:p.Gln44Ter
ENST00000453321.7:c.439C>T	ENSP00000389998.3:p.Gln147Ter
ENST00000453906.5:c.406+5298C>T	ENSP00000403035.1:n.406+5298C>T
ENST00000455946.5:c.*111C>T	ENSP00000416339.1:n.*111C>T
ENST00000474944.5:n.426+5298C>T
ENST00000498673.5:c.-42C>T	ENSP00000430232.1:n.-42C>T
ENST00000518319.5:c.-42C>T	ENSP00000430289.1:n.-42C>T
ENST00000521065.1:c.345C>T
ENST00000521222.5:c.*75C>T	ENSP00000429925.1:n.*75C>T
ENST00000521517.5:c.431C>T
NM_001142301.1:c.196C>T , LRG_688t2:c.196C>T	NP_001135773.1:p.Gln66Ter
NM_153704.5:c.439C>T , LRG_688t1:c.439C>T	NP_714915.3:p.Gln147Ter
NR_024522.1:n.510C>T
XM_006716686.2:c.136C>T	XP_006716749.1:p.Gln46Ter
XM_011517363.1:c.406+5298C>T	XP_011515665.1:n.406+5298C>T
XR_428387.1:n.497C>T
XR_928360.1:n.497C>T
XR_928361.1:n.497C>T
XR_928362.1:n.497C>T
XM_006716686.4:c.136C>T	XP_006716749.1:p.Gln46Ter
XM_011517363.3:c.406+5298C>T	XP_011515665.1:n.406+5298C>T
XM_024447326.1:c.-4+5298C>T	XP_024303094.1:n.-4+5298C>T
XR_001745619.2:n.480C>T
XR_428387.2:n.480C>T
XR_928360.3:n.480C>T
XR_928362.3:n.480C>T
NM_153704.6:c.439C>T MANE Select	NP_714915.3:p.Gln147Ter
NR_024522.2:n.460C>T