Canonical Allele Identifier: CA371689740

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798505T>C (hg19) ; chr8:g.93786277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786277T>C , CM000670.2:g.93786277T>C	GRCh38
NC_000008.10:g.94798505T>C , CM000670.1:g.94798505T>C	GRCh37
NC_000008.9:g.94867681T>C	NCBI36
NG_009190.1:g.36434T>C , LRG_688:g.36434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1343T>C	ENSP00000314488.4:p.Val448Ala
ENST00000409623.8:c.1298T>C	ENSP00000386966.4:p.Val433Ala
ENST00000452276.6:c.1343T>C	ENSP00000388671.2:p.Val448Ala
ENST00000453906.6:c.461T>C	ENSP00000403035.2:p.Val154Ala
ENST00000520680.2:c.1343T>C	ENSP00000428785.2:p.Val448Ala
ENST00000521517.6:c.1343T>C	ENSP00000430740.2:p.Val448Ala
ENST00000681998.1:c.1164T>C	ENSP00000506773.1:n.1164T>C
ENST00000682036.1:c.461T>C	ENSP00000508390.1:p.Val154Ala
ENST00000682577.1:c.1116T>C	ENSP00000506963.1:n.1116T>C
ENST00000682624.1:c.*917T>C	ENSP00000508343.1:n.*917T>C
ENST00000682700.1:c.1343T>C	ENSP00000507627.1:p.Val448Ala
ENST00000682744.1:n.881T>C
ENST00000682804.1:n.1166T>C
ENST00000682837.1:c.832T>C	ENSP00000507920.1:n.832T>C
ENST00000682935.1:n.3393T>C
ENST00000682984.1:c.1004T>C	ENSP00000507209.1:p.Val335Ala
ENST00000683078.1:c.1098T>C	ENSP00000506796.1:n.1098T>C
ENST00000683223.1:c.1075T>C	ENSP00000507685.1:n.1075T>C
ENST00000683238.1:n.2567T>C
ENST00000683249.1:n.2940T>C
ENST00000683336.1:c.1164T>C	ENSP00000507695.1:n.1164T>C
ENST00000683362.1:c.1004T>C	ENSP00000506985.1:p.Val335Ala
ENST00000683850.1:n.1266T>C
ENST00000683919.1:c.1273T>C	ENSP00000507617.1:n.1273T>C
ENST00000683953.1:c.1254T>C	ENSP00000508375.1:n.1254T>C
ENST00000684023.1:c.1320T>C	ENSP00000507461.1:n.1320T>C
ENST00000684064.1:c.1034T>C	ENSP00000508192.1:p.Val345Ala
ENST00000684089.1:n.2893T>C
ENST00000684149.1:c.*522T>C	ENSP00000507943.1:n.*522T>C
ENST00000684416.1:n.1302T>C
ENST00000684540.1:c.1273T>C	ENSP00000507987.1:n.1273T>C
ENST00000453321.8:c.1343T>C MANE Select	ENSP00000389998.3:p.Val448Ala
ENST00000323130.7:c.1313T>C	ENSP00000314488.3:p.Val438Ala
ENST00000409623.7:c.1100T>C	ENSP00000386966.3:p.Val367Ala
ENST00000452276.5:c.1034T>C	ENSP00000388671.1:p.Val345Ala
ENST00000453321.7:c.1343T>C	ENSP00000389998.3:p.Val448Ala
ENST00000453906.5:c.461T>C	ENSP00000403035.1:p.Val154Ala
ENST00000474944.5:n.481T>C
ENST00000520680.1:c.165T>C
NM_001142301.1:c.1100T>C , LRG_688t2:c.1100T>C	NP_001135773.1:p.Val367Ala
NM_153704.5:c.1343T>C , LRG_688t1:c.1343T>C	NP_714915.3:p.Val448Ala
NR_024522.1:n.1414T>C
XM_006716686.2:c.1040T>C	XP_006716749.1:p.Val347Ala
XM_006716687.2:c.743T>C	XP_006716750.1:p.Val248Ala
XM_011517363.1:c.461T>C	XP_011515665.1:p.Val154Ala
XR_428387.1:n.1401T>C
XR_928360.1:n.1401T>C
XR_928361.1:n.1401T>C
XR_928362.1:n.1401T>C
XM_006716686.4:c.1040T>C	XP_006716749.1:p.Val347Ala
XM_011517363.3:c.461T>C	XP_011515665.1:p.Val154Ala
XM_024447326.1:c.689T>C	XP_024303094.1:p.Val230Ala
XR_001745619.2:n.1384T>C
XR_428387.2:n.1384T>C
XR_928360.3:n.1384T>C
XR_928362.3:n.1384T>C
NM_153704.6:c.1343T>C MANE Select	NP_714915.3:p.Val448Ala
NR_024522.2:n.1364T>C