Canonical Allele Identifier: CA461859161

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798572G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786344G>A , CM000670.2:g.93786344G>A	GRCh38
NC_000008.10:g.94798572G>A , CM000670.1:g.94798572G>A	GRCh37
NC_000008.9:g.94867748G>A	NCBI36
NG_009190.1:g.36501G>A , LRG_688:g.36501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1410G>A	ENSP00000314488.4:p.Leu470=
ENST00000409623.8:c.1365G>A	ENSP00000386966.4:p.Leu455=
ENST00000452276.6:c.1410G>A	ENSP00000388671.2:p.Leu470=
ENST00000453906.6:c.528G>A	ENSP00000403035.2:p.Leu176=
ENST00000520680.2:c.1410G>A	ENSP00000428785.2:p.Leu470=
ENST00000521517.6:c.1410G>A	ENSP00000430740.2:p.Leu470=
ENST00000681998.1:c.1231G>A	ENSP00000506773.1:n.1231G>A
ENST00000682036.1:c.528G>A	ENSP00000508390.1:p.Leu176=
ENST00000682577.1:c.1183G>A	ENSP00000506963.1:n.1183G>A
ENST00000682624.1:c.*984G>A	ENSP00000508343.1:n.*984G>A
ENST00000682700.1:c.1410G>A	ENSP00000507627.1:p.Leu470=
ENST00000682744.1:n.948G>A
ENST00000682804.1:n.1233G>A
ENST00000682837.1:c.899G>A	ENSP00000507920.1:n.899G>A
ENST00000682935.1:n.3460G>A
ENST00000682984.1:c.1071G>A	ENSP00000507209.1:p.Leu357=
ENST00000683078.1:c.1165G>A	ENSP00000506796.1:n.1165G>A
ENST00000683223.1:c.1142G>A	ENSP00000507685.1:n.1142G>A
ENST00000683238.1:n.2634G>A
ENST00000683249.1:n.3007G>A
ENST00000683336.1:c.1231G>A	ENSP00000507695.1:n.1231G>A
ENST00000683362.1:c.1071G>A	ENSP00000506985.1:p.Leu357=
ENST00000683850.1:n.1333G>A
ENST00000683919.1:c.1340G>A	ENSP00000507617.1:n.1340G>A
ENST00000683953.1:c.1321G>A	ENSP00000508375.1:n.1321G>A
ENST00000684023.1:c.1387G>A	ENSP00000507461.1:n.1387G>A
ENST00000684064.1:c.1101G>A	ENSP00000508192.1:p.Leu367=
ENST00000684089.1:n.2960G>A
ENST00000684149.1:c.*589G>A	ENSP00000507943.1:n.*589G>A
ENST00000684416.1:n.1369G>A
ENST00000684540.1:c.1340G>A	ENSP00000507987.1:n.1340G>A
ENST00000453321.8:c.1410G>A MANE Select	ENSP00000389998.3:p.Leu470=
ENST00000323130.7:c.1380G>A	ENSP00000314488.3:p.Leu460=
ENST00000409623.7:c.1167G>A	ENSP00000386966.3:p.Leu389=
ENST00000452276.5:c.1101G>A	ENSP00000388671.1:p.Leu367=
ENST00000453321.7:c.1410G>A	ENSP00000389998.3:p.Leu470=
ENST00000453906.5:c.528G>A	ENSP00000403035.1:p.Leu176=
ENST00000474944.5:n.548G>A
ENST00000520680.1:c.232G>A
NM_001142301.1:c.1167G>A , LRG_688t2:c.1167G>A	NP_001135773.1:p.Leu389=
NM_153704.5:c.1410G>A , LRG_688t1:c.1410G>A	NP_714915.3:p.Leu470=
NR_024522.1:n.1481G>A
XM_006716686.2:c.1107G>A	XP_006716749.1:p.Leu369=
XM_006716687.2:c.810G>A	XP_006716750.1:p.Leu270=
XM_011517363.1:c.528G>A	XP_011515665.1:p.Leu176=
XR_428387.1:n.1468G>A
XR_928360.1:n.1468G>A
XR_928361.1:n.1468G>A
XR_928362.1:n.1468G>A
XM_006716686.4:c.1107G>A	XP_006716749.1:p.Leu369=
XM_011517363.3:c.528G>A	XP_011515665.1:p.Leu176=
XM_024447326.1:c.756G>A	XP_024303094.1:p.Leu252=
XR_001745619.2:n.1451G>A
XR_428387.2:n.1451G>A
XR_928360.3:n.1451G>A
XR_928362.3:n.1451G>A
NM_153704.6:c.1410G>A MANE Select	NP_714915.3:p.Leu470=
NR_024522.2:n.1431G>A