Canonical Allele Identifier: CA371689863

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798567T>C (hg19) ; chr8:g.93786339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786339T>C , CM000670.2:g.93786339T>C	GRCh38
NC_000008.10:g.94798567T>C , CM000670.1:g.94798567T>C	GRCh37
NC_000008.9:g.94867743T>C	NCBI36
NG_009190.1:g.36496T>C , LRG_688:g.36496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1405T>C	ENSP00000314488.4:p.Ser469Pro
ENST00000409623.8:c.1360T>C	ENSP00000386966.4:p.Ser454Pro
ENST00000452276.6:c.1405T>C	ENSP00000388671.2:p.Ser469Pro
ENST00000453906.6:c.523T>C	ENSP00000403035.2:p.Ser175Pro
ENST00000520680.2:c.1405T>C	ENSP00000428785.2:p.Ser469Pro
ENST00000521517.6:c.1405T>C	ENSP00000430740.2:p.Ser469Pro
ENST00000681998.1:c.1226T>C	ENSP00000506773.1:n.1226T>C
ENST00000682036.1:c.523T>C	ENSP00000508390.1:p.Ser175Pro
ENST00000682577.1:c.1178T>C	ENSP00000506963.1:n.1178T>C
ENST00000682624.1:c.*979T>C	ENSP00000508343.1:n.*979T>C
ENST00000682700.1:c.1405T>C	ENSP00000507627.1:p.Ser469Pro
ENST00000682744.1:n.943T>C
ENST00000682804.1:n.1228T>C
ENST00000682837.1:c.894T>C	ENSP00000507920.1:n.894T>C
ENST00000682935.1:n.3455T>C
ENST00000682984.1:c.1066T>C	ENSP00000507209.1:p.Ser356Pro
ENST00000683078.1:c.1160T>C	ENSP00000506796.1:n.1160T>C
ENST00000683223.1:c.1137T>C	ENSP00000507685.1:n.1137T>C
ENST00000683238.1:n.2629T>C
ENST00000683249.1:n.3002T>C
ENST00000683336.1:c.1226T>C	ENSP00000507695.1:n.1226T>C
ENST00000683362.1:c.1066T>C	ENSP00000506985.1:p.Ser356Pro
ENST00000683850.1:n.1328T>C
ENST00000683919.1:c.1335T>C	ENSP00000507617.1:n.1335T>C
ENST00000683953.1:c.1316T>C	ENSP00000508375.1:n.1316T>C
ENST00000684023.1:c.1382T>C	ENSP00000507461.1:n.1382T>C
ENST00000684064.1:c.1096T>C	ENSP00000508192.1:p.Ser366Pro
ENST00000684089.1:n.2955T>C
ENST00000684149.1:c.*584T>C	ENSP00000507943.1:n.*584T>C
ENST00000684416.1:n.1364T>C
ENST00000684540.1:c.1335T>C	ENSP00000507987.1:n.1335T>C
ENST00000453321.8:c.1405T>C MANE Select	ENSP00000389998.3:p.Ser469Pro
ENST00000323130.7:c.1375T>C	ENSP00000314488.3:p.Ser459Pro
ENST00000409623.7:c.1162T>C	ENSP00000386966.3:p.Ser388Pro
ENST00000452276.5:c.1096T>C	ENSP00000388671.1:p.Ser366Pro
ENST00000453321.7:c.1405T>C	ENSP00000389998.3:p.Ser469Pro
ENST00000453906.5:c.523T>C	ENSP00000403035.1:p.Ser175Pro
ENST00000474944.5:n.543T>C
ENST00000520680.1:c.227T>C
NM_001142301.1:c.1162T>C , LRG_688t2:c.1162T>C	NP_001135773.1:p.Ser388Pro
NM_153704.5:c.1405T>C , LRG_688t1:c.1405T>C	NP_714915.3:p.Ser469Pro
NR_024522.1:n.1476T>C
XM_006716686.2:c.1102T>C	XP_006716749.1:p.Ser368Pro
XM_006716687.2:c.805T>C	XP_006716750.1:p.Ser269Pro
XM_011517363.1:c.523T>C	XP_011515665.1:p.Ser175Pro
XR_428387.1:n.1463T>C
XR_928360.1:n.1463T>C
XR_928361.1:n.1463T>C
XR_928362.1:n.1463T>C
XM_006716686.4:c.1102T>C	XP_006716749.1:p.Ser368Pro
XM_011517363.3:c.523T>C	XP_011515665.1:p.Ser175Pro
XM_024447326.1:c.751T>C	XP_024303094.1:p.Ser251Pro
XR_001745619.2:n.1446T>C
XR_428387.2:n.1446T>C
XR_928360.3:n.1446T>C
XR_928362.3:n.1446T>C
NM_153704.6:c.1405T>C MANE Select	NP_714915.3:p.Ser469Pro
NR_024522.2:n.1426T>C