Canonical Allele Identifier: CA371687705

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792826T>G (hg19) ; chr8:g.93780598T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780598T>G , CM000670.2:g.93780598T>G	GRCh38
NC_000008.10:g.94792826T>G , CM000670.1:g.94792826T>G	GRCh37
NC_000008.9:g.94862002T>G	NCBI36
NG_009190.1:g.30755T>G , LRG_688:g.30755T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.720T>G	ENSP00000314488.4:p.Tyr240Ter
ENST00000409623.8:c.720T>G	ENSP00000386966.4:p.Tyr240Ter
ENST00000452276.6:c.720T>G	ENSP00000388671.2:p.Tyr240Ter
ENST00000453906.6:c.407-5625T>G	ENSP00000403035.2:n.407-5625T>G
ENST00000520680.2:c.720T>G	ENSP00000428785.2:p.Tyr240Ter
ENST00000521065.2:c.*437T>G	ENSP00000427947.2:n.*437T>G
ENST00000521517.6:c.720T>G	ENSP00000430740.2:p.Tyr240Ter
ENST00000681998.1:c.650T>G	ENSP00000506773.1:n.650T>G
ENST00000682036.1:c.407-5625T>G	ENSP00000508390.1:n.407-5625T>G
ENST00000682577.1:c.650T>G	ENSP00000506963.1:n.650T>G
ENST00000682624.1:c.*294T>G	ENSP00000508343.1:n.*294T>G
ENST00000682700.1:c.720T>G	ENSP00000507627.1:p.Tyr240Ter
ENST00000682744.1:n.258T>G
ENST00000682804.1:n.543T>G
ENST00000682837.1:c.475T>G	ENSP00000507920.1:p.Cys159Gly
ENST00000682935.1:n.2280T>G
ENST00000682984.1:c.381T>G	ENSP00000507209.1:p.Tyr127Ter
ENST00000683078.1:c.475T>G	ENSP00000506796.1:p.Cys159Gly
ENST00000683223.1:c.561T>G	ENSP00000507685.1:n.561T>G
ENST00000683238.1:n.2101T>G
ENST00000683249.1:n.2301T>G
ENST00000683336.1:c.650T>G	ENSP00000507695.1:n.650T>G
ENST00000683362.1:c.381T>G	ENSP00000506985.1:p.Tyr127Ter
ENST00000683850.1:n.643T>G
ENST00000683919.1:c.650T>G	ENSP00000507617.1:n.650T>G
ENST00000683953.1:c.631T>G	ENSP00000508375.1:n.631T>G
ENST00000684023.1:c.854T>G	ENSP00000507461.1:n.854T>G
ENST00000684064.1:c.411T>G	ENSP00000508192.1:p.Tyr137Ter
ENST00000684089.1:n.2270T>G
ENST00000684149.1:c.*56T>G	ENSP00000507943.1:n.*56T>G
ENST00000684416.1:n.679T>G
ENST00000684540.1:c.650T>G	ENSP00000507987.1:n.650T>G
ENST00000453321.8:c.720T>G MANE Select	ENSP00000389998.3:p.Tyr240Ter
ENST00000323130.7:c.690T>G	ENSP00000314488.3:p.Tyr230Ter
ENST00000409623.7:c.477T>G	ENSP00000386966.3:p.Tyr159Ter
ENST00000425545.2:n.167T>G
ENST00000452276.5:c.411T>G	ENSP00000388671.1:p.Tyr137Ter
ENST00000453321.7:c.720T>G	ENSP00000389998.3:p.Tyr240Ter
ENST00000453906.5:c.407-5625T>G	ENSP00000403035.1:n.407-5625T>G
ENST00000474944.5:n.427-5625T>G
ENST00000496213.5:n.185T>G
NM_001142301.1:c.477T>G , LRG_688t2:c.477T>G	NP_001135773.1:p.Tyr159Ter
NM_153704.5:c.720T>G , LRG_688t1:c.720T>G	NP_714915.3:p.Tyr240Ter
NR_024522.1:n.791T>G
XM_006716686.2:c.417T>G	XP_006716749.1:p.Tyr139Ter
XM_006716687.2:c.120T>G	XP_006716750.1:p.Tyr40Ter
XM_011517363.1:c.407-5625T>G	XP_011515665.1:n.407-5625T>G
XR_428387.1:n.778T>G
XR_928360.1:n.778T>G
XR_928361.1:n.778T>G
XR_928362.1:n.778T>G
XM_006716686.4:c.417T>G	XP_006716749.1:p.Tyr139Ter
XM_011517363.3:c.407-5625T>G	XP_011515665.1:n.407-5625T>G
XM_024447326.1:c.66T>G	XP_024303094.1:p.Tyr22Ter
XR_001745619.2:n.761T>G
XR_428387.2:n.761T>G
XR_928360.3:n.761T>G
XR_928362.3:n.761T>G
NM_153704.6:c.720T>G MANE Select	NP_714915.3:p.Tyr240Ter
NR_024522.2:n.741T>G