Canonical Allele Identifier: CA371689716

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798493T>G (hg19) ; chr8:g.93786265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786265T>G , CM000670.2:g.93786265T>G	GRCh38
NC_000008.10:g.94798493T>G , CM000670.1:g.94798493T>G	GRCh37
NC_000008.9:g.94867669T>G	NCBI36
NG_009190.1:g.36422T>G , LRG_688:g.36422T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1331T>G	ENSP00000314488.4:p.Leu444Ter
ENST00000409623.8:c.1289-3T>G	ENSP00000386966.4:n.1289-3T>G
ENST00000452276.6:c.1331T>G	ENSP00000388671.2:p.Leu444Ter
ENST00000453906.6:c.449T>G	ENSP00000403035.2:p.Leu150Ter
ENST00000520680.2:c.1331T>G	ENSP00000428785.2:p.Leu444Ter
ENST00000521517.6:c.1331T>G	ENSP00000430740.2:p.Leu444Ter
ENST00000681998.1:c.1152T>G	ENSP00000506773.1:n.1152T>G
ENST00000682036.1:c.449T>G	ENSP00000508390.1:p.Leu150Ter
ENST00000682577.1:c.1104T>G	ENSP00000506963.1:n.1104T>G
ENST00000682624.1:c.*905T>G	ENSP00000508343.1:n.*905T>G
ENST00000682700.1:c.1331T>G	ENSP00000507627.1:p.Leu444Ter
ENST00000682744.1:n.869T>G
ENST00000682804.1:n.1154T>G
ENST00000682837.1:c.820T>G	ENSP00000507920.1:n.820T>G
ENST00000682935.1:n.3381T>G
ENST00000682984.1:c.992T>G	ENSP00000507209.1:p.Leu331Ter
ENST00000683078.1:c.1086T>G	ENSP00000506796.1:n.1086T>G
ENST00000683223.1:c.1063T>G	ENSP00000507685.1:n.1063T>G
ENST00000683238.1:n.2555T>G
ENST00000683249.1:n.2928T>G
ENST00000683336.1:c.1152T>G	ENSP00000507695.1:n.1152T>G
ENST00000683362.1:c.992T>G	ENSP00000506985.1:p.Leu331Ter
ENST00000683850.1:n.1254T>G
ENST00000683919.1:c.1261T>G	ENSP00000507617.1:n.1261T>G
ENST00000683953.1:c.1242T>G	ENSP00000508375.1:n.1242T>G
ENST00000684023.1:c.1308T>G	ENSP00000507461.1:n.1308T>G
ENST00000684064.1:c.1022T>G	ENSP00000508192.1:p.Leu341Ter
ENST00000684089.1:n.2881T>G
ENST00000684149.1:c.*510T>G	ENSP00000507943.1:n.*510T>G
ENST00000684416.1:n.1290T>G
ENST00000684540.1:c.1261T>G	ENSP00000507987.1:n.1261T>G
ENST00000453321.8:c.1331T>G MANE Select	ENSP00000389998.3:p.Leu444Ter
ENST00000323130.7:c.1301T>G	ENSP00000314488.3:p.Leu434Ter
ENST00000409623.7:c.1088T>G	ENSP00000386966.3:p.Leu363Ter
ENST00000452276.5:c.1022T>G	ENSP00000388671.1:p.Leu341Ter
ENST00000453321.7:c.1331T>G	ENSP00000389998.3:p.Leu444Ter
ENST00000453906.5:c.449T>G	ENSP00000403035.1:p.Leu150Ter
ENST00000474944.5:n.469T>G
ENST00000520680.1:c.153T>G
NM_001142301.1:c.1088T>G , LRG_688t2:c.1088T>G	NP_001135773.1:p.Leu363Ter
NM_153704.5:c.1331T>G , LRG_688t1:c.1331T>G	NP_714915.3:p.Leu444Ter
NR_024522.1:n.1402T>G
XM_006716686.2:c.1028T>G	XP_006716749.1:p.Leu343Ter
XM_006716687.2:c.731T>G	XP_006716750.1:p.Leu244Ter
XM_011517363.1:c.449T>G	XP_011515665.1:p.Leu150Ter
XR_428387.1:n.1389T>G
XR_928360.1:n.1389T>G
XR_928361.1:n.1389T>G
XR_928362.1:n.1389T>G
XM_006716686.4:c.1028T>G	XP_006716749.1:p.Leu343Ter
XM_011517363.3:c.449T>G	XP_011515665.1:p.Leu150Ter
XM_024447326.1:c.677T>G	XP_024303094.1:p.Leu226Ter
XR_001745619.2:n.1372T>G
XR_428387.2:n.1372T>G
XR_928360.3:n.1372T>G
XR_928362.3:n.1372T>G
NM_153704.6:c.1331T>G MANE Select	NP_714915.3:p.Leu444Ter
NR_024522.2:n.1352T>G