Canonical Allele Identifier: CA371689732

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798501G>T (hg19) ; chr8:g.93786273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786273G>T , CM000670.2:g.93786273G>T	GRCh38
NC_000008.10:g.94798501G>T , CM000670.1:g.94798501G>T	GRCh37
NC_000008.9:g.94867677G>T	NCBI36
NG_009190.1:g.36430G>T , LRG_688:g.36430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1339G>T	ENSP00000314488.4:p.Ala447Ser
ENST00000409623.8:c.1294G>T	ENSP00000386966.4:p.Ala432Ser
ENST00000452276.6:c.1339G>T	ENSP00000388671.2:p.Ala447Ser
ENST00000453906.6:c.457G>T	ENSP00000403035.2:p.Ala153Ser
ENST00000520680.2:c.1339G>T	ENSP00000428785.2:p.Ala447Ser
ENST00000521517.6:c.1339G>T	ENSP00000430740.2:p.Ala447Ser
ENST00000681998.1:c.1160G>T	ENSP00000506773.1:n.1160G>T
ENST00000682036.1:c.457G>T	ENSP00000508390.1:p.Ala153Ser
ENST00000682577.1:c.1112G>T	ENSP00000506963.1:n.1112G>T
ENST00000682624.1:c.*913G>T	ENSP00000508343.1:n.*913G>T
ENST00000682700.1:c.1339G>T	ENSP00000507627.1:p.Ala447Ser
ENST00000682744.1:n.877G>T
ENST00000682804.1:n.1162G>T
ENST00000682837.1:c.828G>T	ENSP00000507920.1:n.828G>T
ENST00000682935.1:n.3389G>T
ENST00000682984.1:c.1000G>T	ENSP00000507209.1:p.Ala334Ser
ENST00000683078.1:c.1094G>T	ENSP00000506796.1:n.1094G>T
ENST00000683223.1:c.1071G>T	ENSP00000507685.1:n.1071G>T
ENST00000683238.1:n.2563G>T
ENST00000683249.1:n.2936G>T
ENST00000683336.1:c.1160G>T	ENSP00000507695.1:n.1160G>T
ENST00000683362.1:c.1000G>T	ENSP00000506985.1:p.Ala334Ser
ENST00000683850.1:n.1262G>T
ENST00000683919.1:c.1269G>T	ENSP00000507617.1:n.1269G>T
ENST00000683953.1:c.1250G>T	ENSP00000508375.1:n.1250G>T
ENST00000684023.1:c.1316G>T	ENSP00000507461.1:n.1316G>T
ENST00000684064.1:c.1030G>T	ENSP00000508192.1:p.Ala344Ser
ENST00000684089.1:n.2889G>T
ENST00000684149.1:c.*518G>T	ENSP00000507943.1:n.*518G>T
ENST00000684416.1:n.1298G>T
ENST00000684540.1:c.1269G>T	ENSP00000507987.1:n.1269G>T
ENST00000453321.8:c.1339G>T MANE Select	ENSP00000389998.3:p.Ala447Ser
ENST00000323130.7:c.1309G>T	ENSP00000314488.3:p.Ala437Ser
ENST00000409623.7:c.1096G>T	ENSP00000386966.3:p.Ala366Ser
ENST00000452276.5:c.1030G>T	ENSP00000388671.1:p.Ala344Ser
ENST00000453321.7:c.1339G>T	ENSP00000389998.3:p.Ala447Ser
ENST00000453906.5:c.457G>T	ENSP00000403035.1:p.Ala153Ser
ENST00000474944.5:n.477G>T
ENST00000520680.1:c.161G>T
NM_001142301.1:c.1096G>T , LRG_688t2:c.1096G>T	NP_001135773.1:p.Ala366Ser
NM_153704.5:c.1339G>T , LRG_688t1:c.1339G>T	NP_714915.3:p.Ala447Ser
NR_024522.1:n.1410G>T
XM_006716686.2:c.1036G>T	XP_006716749.1:p.Ala346Ser
XM_006716687.2:c.739G>T	XP_006716750.1:p.Ala247Ser
XM_011517363.1:c.457G>T	XP_011515665.1:p.Ala153Ser
XR_428387.1:n.1397G>T
XR_928360.1:n.1397G>T
XR_928361.1:n.1397G>T
XR_928362.1:n.1397G>T
XM_006716686.4:c.1036G>T	XP_006716749.1:p.Ala346Ser
XM_011517363.3:c.457G>T	XP_011515665.1:p.Ala153Ser
XM_024447326.1:c.685G>T	XP_024303094.1:p.Ala229Ser
XR_001745619.2:n.1380G>T
XR_428387.2:n.1380G>T
XR_928360.3:n.1380G>T
XR_928362.3:n.1380G>T
NM_153704.6:c.1339G>T MANE Select	NP_714915.3:p.Ala447Ser
NR_024522.2:n.1360G>T