Canonical Allele Identifier: CA371689807

Gene: TMEM67

Linked Data

• COSMIC: COSM5723941 ; COSM5723942 ; COSM5723943
• MyVariant Identifiers: chr8:g.94798537C>T (hg19) ; chr8:g.93786309C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1375C>T	ENSP00000314488.4:p.Pro459Ser
ENST00000409623.8:c.1330C>T	ENSP00000386966.4:p.Pro444Ser
ENST00000452276.6:c.1375C>T	ENSP00000388671.2:p.Pro459Ser
ENST00000453906.6:c.493C>T	ENSP00000403035.2:p.Pro165Ser
ENST00000520680.2:c.1375C>T	ENSP00000428785.2:p.Pro459Ser
ENST00000521517.6:c.1375C>T	ENSP00000430740.2:p.Pro459Ser
ENST00000681998.1:c.1196C>T	ENSP00000506773.1:n.1196C>T
ENST00000682036.1:c.493C>T	ENSP00000508390.1:p.Pro165Ser
ENST00000682577.1:c.1148C>T	ENSP00000506963.1:n.1148C>T
ENST00000682624.1:c.*949C>T	ENSP00000508343.1:n.*949C>T
ENST00000682700.1:c.1375C>T	ENSP00000507627.1:p.Pro459Ser
ENST00000682744.1:n.913C>T
ENST00000682804.1:n.1198C>T
ENST00000682837.1:c.864C>T	ENSP00000507920.1:n.864C>T
ENST00000682935.1:n.3425C>T
ENST00000682984.1:c.1036C>T	ENSP00000507209.1:p.Pro346Ser
ENST00000683078.1:c.1130C>T	ENSP00000506796.1:n.1130C>T
ENST00000683223.1:c.1107C>T	ENSP00000507685.1:n.1107C>T
ENST00000683238.1:n.2599C>T
ENST00000683249.1:n.2972C>T
ENST00000683336.1:c.1196C>T	ENSP00000507695.1:n.1196C>T
ENST00000683362.1:c.1036C>T	ENSP00000506985.1:p.Pro346Ser
ENST00000683850.1:n.1298C>T
ENST00000683919.1:c.1305C>T	ENSP00000507617.1:n.1305C>T
ENST00000683953.1:c.1286C>T	ENSP00000508375.1:n.1286C>T
ENST00000684023.1:c.1352C>T	ENSP00000507461.1:n.1352C>T
ENST00000684064.1:c.1066C>T	ENSP00000508192.1:p.Pro356Ser
ENST00000684089.1:n.2925C>T
ENST00000684149.1:c.*554C>T	ENSP00000507943.1:n.*554C>T
ENST00000684416.1:n.1334C>T
ENST00000684540.1:c.1305C>T	ENSP00000507987.1:n.1305C>T
ENST00000453321.8:c.1375C>T MANE Select	ENSP00000389998.3:p.Pro459Ser
ENST00000323130.7:c.1345C>T	ENSP00000314488.3:p.Pro449Ser
ENST00000409623.7:c.1132C>T	ENSP00000386966.3:p.Pro378Ser
ENST00000452276.5:c.1066C>T	ENSP00000388671.1:p.Pro356Ser
ENST00000453321.7:c.1375C>T	ENSP00000389998.3:p.Pro459Ser
ENST00000453906.5:c.493C>T	ENSP00000403035.1:p.Pro165Ser
ENST00000474944.5:n.513C>T
ENST00000520680.1:c.197C>T
NM_001142301.1:c.1132C>T , LRG_688t2:c.1132C>T	NP_001135773.1:p.Pro378Ser
NM_153704.5:c.1375C>T , LRG_688t1:c.1375C>T	NP_714915.3:p.Pro459Ser
NR_024522.1:n.1446C>T
XM_006716686.2:c.1072C>T	XP_006716749.1:p.Pro358Ser
XM_006716687.2:c.775C>T	XP_006716750.1:p.Pro259Ser
XM_011517363.1:c.493C>T	XP_011515665.1:p.Pro165Ser
XR_428387.1:n.1433C>T
XR_928360.1:n.1433C>T
XR_928361.1:n.1433C>T
XR_928362.1:n.1433C>T
XM_006716686.4:c.1072C>T	XP_006716749.1:p.Pro358Ser
XM_011517363.3:c.493C>T	XP_011515665.1:p.Pro165Ser
XM_024447326.1:c.721C>T	XP_024303094.1:p.Pro241Ser
XR_001745619.2:n.1416C>T
XR_428387.2:n.1416C>T
XR_928360.3:n.1416C>T
XR_928362.3:n.1416C>T
NM_153704.6:c.1375C>T MANE Select	NP_714915.3:p.Pro459Ser
NR_024522.2:n.1396C>T