Canonical Allele Identifier: CA371689867

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93786340-C-T
• MyVariant Identifiers: chr8:g.94798568C>T (hg19) ; chr8:g.93786340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786340C>T , CM000670.2:g.93786340C>T	GRCh38
NC_000008.10:g.94798568C>T , CM000670.1:g.94798568C>T	GRCh37
NC_000008.9:g.94867744C>T	NCBI36
NG_009190.1:g.36497C>T , LRG_688:g.36497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1406C>T	ENSP00000314488.4:p.Ser469Leu
ENST00000409623.8:c.1361C>T	ENSP00000386966.4:p.Ser454Leu
ENST00000452276.6:c.1406C>T	ENSP00000388671.2:p.Ser469Leu
ENST00000453906.6:c.524C>T	ENSP00000403035.2:p.Ser175Leu
ENST00000520680.2:c.1406C>T	ENSP00000428785.2:p.Ser469Leu
ENST00000521517.6:c.1406C>T	ENSP00000430740.2:p.Ser469Leu
ENST00000681998.1:c.1227C>T	ENSP00000506773.1:n.1227C>T
ENST00000682036.1:c.524C>T	ENSP00000508390.1:p.Ser175Leu
ENST00000682577.1:c.1179C>T	ENSP00000506963.1:n.1179C>T
ENST00000682624.1:c.*980C>T	ENSP00000508343.1:n.*980C>T
ENST00000682700.1:c.1406C>T	ENSP00000507627.1:p.Ser469Leu
ENST00000682744.1:n.944C>T
ENST00000682804.1:n.1229C>T
ENST00000682837.1:c.895C>T	ENSP00000507920.1:n.895C>T
ENST00000682935.1:n.3456C>T
ENST00000682984.1:c.1067C>T	ENSP00000507209.1:p.Ser356Leu
ENST00000683078.1:c.1161C>T	ENSP00000506796.1:n.1161C>T
ENST00000683223.1:c.1138C>T	ENSP00000507685.1:n.1138C>T
ENST00000683238.1:n.2630C>T
ENST00000683249.1:n.3003C>T
ENST00000683336.1:c.1227C>T	ENSP00000507695.1:n.1227C>T
ENST00000683362.1:c.1067C>T	ENSP00000506985.1:p.Ser356Leu
ENST00000683850.1:n.1329C>T
ENST00000683919.1:c.1336C>T	ENSP00000507617.1:n.1336C>T
ENST00000683953.1:c.1317C>T	ENSP00000508375.1:n.1317C>T
ENST00000684023.1:c.1383C>T	ENSP00000507461.1:n.1383C>T
ENST00000684064.1:c.1097C>T	ENSP00000508192.1:p.Ser366Leu
ENST00000684089.1:n.2956C>T
ENST00000684149.1:c.*585C>T	ENSP00000507943.1:n.*585C>T
ENST00000684416.1:n.1365C>T
ENST00000684540.1:c.1336C>T	ENSP00000507987.1:n.1336C>T
ENST00000453321.8:c.1406C>T MANE Select	ENSP00000389998.3:p.Ser469Leu
ENST00000323130.7:c.1376C>T	ENSP00000314488.3:p.Ser459Leu
ENST00000409623.7:c.1163C>T	ENSP00000386966.3:p.Ser388Leu
ENST00000452276.5:c.1097C>T	ENSP00000388671.1:p.Ser366Leu
ENST00000453321.7:c.1406C>T	ENSP00000389998.3:p.Ser469Leu
ENST00000453906.5:c.524C>T	ENSP00000403035.1:p.Ser175Leu
ENST00000474944.5:n.544C>T
ENST00000520680.1:c.228C>T
NM_001142301.1:c.1163C>T , LRG_688t2:c.1163C>T	NP_001135773.1:p.Ser388Leu
NM_153704.5:c.1406C>T , LRG_688t1:c.1406C>T	NP_714915.3:p.Ser469Leu
NR_024522.1:n.1477C>T
XM_006716686.2:c.1103C>T	XP_006716749.1:p.Ser368Leu
XM_006716687.2:c.806C>T	XP_006716750.1:p.Ser269Leu
XM_011517363.1:c.524C>T	XP_011515665.1:p.Ser175Leu
XR_428387.1:n.1464C>T
XR_928360.1:n.1464C>T
XR_928361.1:n.1464C>T
XR_928362.1:n.1464C>T
XM_006716686.4:c.1103C>T	XP_006716749.1:p.Ser368Leu
XM_011517363.3:c.524C>T	XP_011515665.1:p.Ser175Leu
XM_024447326.1:c.752C>T	XP_024303094.1:p.Ser251Leu
XR_001745619.2:n.1447C>T
XR_428387.2:n.1447C>T
XR_928360.3:n.1447C>T
XR_928362.3:n.1447C>T
NM_153704.6:c.1406C>T MANE Select	NP_714915.3:p.Ser469Leu
NR_024522.2:n.1427C>T