Canonical Allele Identifier: CA371698897

Gene: TMEM67

Linked Data

• dbSNP Id: rs1287581546
• gnomAD v4: 8-93808855-C-T
• MyVariant Identifiers: chr8:g.94821083C>T (hg19) ; chr8:g.93808855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808855C>T , CM000670.2:g.93808855C>T	GRCh38
NC_000008.10:g.94821083C>T , CM000670.1:g.94821083C>T	GRCh37
NC_000008.9:g.94890259C>T	NCBI36
NG_009190.1:g.59012C>T , LRG_688:g.59012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2455C>T	ENSP00000314488.4:p.Gln819Ter
ENST00000409623.8:c.2410C>T	ENSP00000386966.4:p.Gln804Ter
ENST00000452276.6:c.2338C>T	ENSP00000388671.2:p.Gln780Ter
ENST00000453906.6:c.1573C>T	ENSP00000403035.2:p.Gln525Ter
ENST00000518896.2:c.746C>T	ENSP00000507992.1:n.746C>T
ENST00000520680.2:c.2578C>T	ENSP00000428785.2:p.Gln860Ter
ENST00000521517.6:c.2356C>T	ENSP00000430740.2:p.Gln786Ter
ENST00000681998.1:c.2276C>T	ENSP00000506773.1:n.2276C>T
ENST00000682036.1:c.1696C>T	ENSP00000508390.1:p.Gln566Ter
ENST00000682577.1:c.2228C>T	ENSP00000506963.1:n.2228C>T
ENST00000682624.1:c.*2029C>T	ENSP00000508343.1:n.*2029C>T
ENST00000682700.1:c.2455C>T	ENSP00000507627.1:p.Gln819Ter
ENST00000682744.1:n.1993C>T
ENST00000682804.1:n.2278C>T
ENST00000682837.1:c.1944C>T	ENSP00000507920.1:n.1944C>T
ENST00000682935.1:n.4505C>T
ENST00000682984.1:c.2116C>T	ENSP00000507209.1:p.Gln706Ter
ENST00000683078.1:c.2210C>T	ENSP00000506796.1:n.2210C>T
ENST00000683223.1:c.2187C>T	ENSP00000507685.1:n.2187C>T
ENST00000683238.1:n.3679C>T
ENST00000683249.1:n.4052C>T
ENST00000683336.1:c.2276C>T	ENSP00000507695.1:n.2276C>T
ENST00000683362.1:c.2116C>T	ENSP00000506985.1:p.Gln706Ter
ENST00000683850.1:n.2378C>T
ENST00000683919.1:c.2385C>T	ENSP00000507617.1:n.2385C>T
ENST00000683953.1:c.2366C>T	ENSP00000508375.1:n.2366C>T
ENST00000684023.1:c.2432C>T	ENSP00000507461.1:n.2432C>T
ENST00000684064.1:c.2146C>T	ENSP00000508192.1:p.Gln716Ter
ENST00000684089.1:n.4005C>T
ENST00000684149.1:c.*1634C>T	ENSP00000507943.1:n.*1634C>T
ENST00000684343.1:c.652C>T	ENSP00000507591.1:p.Gln218Ter
ENST00000684416.1:n.2414C>T
ENST00000684540.1:c.2385C>T	ENSP00000507987.1:n.2385C>T
ENST00000453321.8:c.2455C>T MANE Select	ENSP00000389998.3:p.Gln819Ter
ENST00000323130.7:c.2425C>T	ENSP00000314488.3:p.Gln809Ter
ENST00000409623.7:c.2212C>T	ENSP00000386966.3:p.Gln738Ter
ENST00000453321.7:c.2455C>T	ENSP00000389998.3:p.Gln819Ter
ENST00000474944.5:n.1593C>T
ENST00000519845.5:n.1187C>T
NM_001142301.1:c.2212C>T , LRG_688t2:c.2212C>T	NP_001135773.1:p.Gln738Ter
NM_153704.5:c.2455C>T , LRG_688t1:c.2455C>T	NP_714915.3:p.Gln819Ter
NR_024522.1:n.2526C>T
XM_006716686.2:c.2152C>T	XP_006716749.1:p.Gln718Ter
XM_006716687.2:c.1855C>T	XP_006716750.1:p.Gln619Ter
XM_011517363.1:c.1573C>T	XP_011515665.1:p.Gln525Ter
XR_428387.1:n.2513C>T
XR_928360.1:n.2513C>T
XR_928361.1:n.2513C>T
XR_928362.1:n.2513C>T
XM_006716686.4:c.2152C>T	XP_006716749.1:p.Gln718Ter
XM_011517363.3:c.1573C>T	XP_011515665.1:p.Gln525Ter
XM_024447326.1:c.1801C>T	XP_024303094.1:p.Gln601Ter
XR_001745619.2:n.2496C>T
XR_428387.2:n.2496C>T
XR_928360.3:n.2496C>T
XR_928362.3:n.2496C>T
NM_153704.6:c.2455C>T MANE Select	NP_714915.3:p.Gln819Ter
NR_024522.2:n.2476C>T