Canonical Allele Identifier: CA371689805

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798537C>A (hg19) ; chr8:g.93786309C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786309C>A , CM000670.2:g.93786309C>A	GRCh38
NC_000008.10:g.94798537C>A , CM000670.1:g.94798537C>A	GRCh37
NC_000008.9:g.94867713C>A	NCBI36
NG_009190.1:g.36466C>A , LRG_688:g.36466C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1375C>A	ENSP00000314488.4:p.Pro459Thr
ENST00000409623.8:c.1330C>A	ENSP00000386966.4:p.Pro444Thr
ENST00000452276.6:c.1375C>A	ENSP00000388671.2:p.Pro459Thr
ENST00000453906.6:c.493C>A	ENSP00000403035.2:p.Pro165Thr
ENST00000520680.2:c.1375C>A	ENSP00000428785.2:p.Pro459Thr
ENST00000521517.6:c.1375C>A	ENSP00000430740.2:p.Pro459Thr
ENST00000681998.1:c.1196C>A	ENSP00000506773.1:n.1196C>A
ENST00000682036.1:c.493C>A	ENSP00000508390.1:p.Pro165Thr
ENST00000682577.1:c.1148C>A	ENSP00000506963.1:n.1148C>A
ENST00000682624.1:c.*949C>A	ENSP00000508343.1:n.*949C>A
ENST00000682700.1:c.1375C>A	ENSP00000507627.1:p.Pro459Thr
ENST00000682744.1:n.913C>A
ENST00000682804.1:n.1198C>A
ENST00000682837.1:c.864C>A	ENSP00000507920.1:n.864C>A
ENST00000682935.1:n.3425C>A
ENST00000682984.1:c.1036C>A	ENSP00000507209.1:p.Pro346Thr
ENST00000683078.1:c.1130C>A	ENSP00000506796.1:n.1130C>A
ENST00000683223.1:c.1107C>A	ENSP00000507685.1:n.1107C>A
ENST00000683238.1:n.2599C>A
ENST00000683249.1:n.2972C>A
ENST00000683336.1:c.1196C>A	ENSP00000507695.1:n.1196C>A
ENST00000683362.1:c.1036C>A	ENSP00000506985.1:p.Pro346Thr
ENST00000683850.1:n.1298C>A
ENST00000683919.1:c.1305C>A	ENSP00000507617.1:n.1305C>A
ENST00000683953.1:c.1286C>A	ENSP00000508375.1:n.1286C>A
ENST00000684023.1:c.1352C>A	ENSP00000507461.1:n.1352C>A
ENST00000684064.1:c.1066C>A	ENSP00000508192.1:p.Pro356Thr
ENST00000684089.1:n.2925C>A
ENST00000684149.1:c.*554C>A	ENSP00000507943.1:n.*554C>A
ENST00000684416.1:n.1334C>A
ENST00000684540.1:c.1305C>A	ENSP00000507987.1:n.1305C>A
ENST00000453321.8:c.1375C>A MANE Select	ENSP00000389998.3:p.Pro459Thr
ENST00000323130.7:c.1345C>A	ENSP00000314488.3:p.Pro449Thr
ENST00000409623.7:c.1132C>A	ENSP00000386966.3:p.Pro378Thr
ENST00000452276.5:c.1066C>A	ENSP00000388671.1:p.Pro356Thr
ENST00000453321.7:c.1375C>A	ENSP00000389998.3:p.Pro459Thr
ENST00000453906.5:c.493C>A	ENSP00000403035.1:p.Pro165Thr
ENST00000474944.5:n.513C>A
ENST00000520680.1:c.197C>A
NM_001142301.1:c.1132C>A , LRG_688t2:c.1132C>A	NP_001135773.1:p.Pro378Thr
NM_153704.5:c.1375C>A , LRG_688t1:c.1375C>A	NP_714915.3:p.Pro459Thr
NR_024522.1:n.1446C>A
XM_006716686.2:c.1072C>A	XP_006716749.1:p.Pro358Thr
XM_006716687.2:c.775C>A	XP_006716750.1:p.Pro259Thr
XM_011517363.1:c.493C>A	XP_011515665.1:p.Pro165Thr
XR_428387.1:n.1433C>A
XR_928360.1:n.1433C>A
XR_928361.1:n.1433C>A
XR_928362.1:n.1433C>A
XM_006716686.4:c.1072C>A	XP_006716749.1:p.Pro358Thr
XM_011517363.3:c.493C>A	XP_011515665.1:p.Pro165Thr
XM_024447326.1:c.721C>A	XP_024303094.1:p.Pro241Thr
XR_001745619.2:n.1416C>A
XR_428387.2:n.1416C>A
XR_928360.3:n.1416C>A
XR_928362.3:n.1416C>A
NM_153704.6:c.1375C>A MANE Select	NP_714915.3:p.Pro459Thr
NR_024522.2:n.1396C>A