Canonical Allele Identifier: CA371699007

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821119T>C (hg19) ; chr8:g.93808891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808891T>C , CM000670.2:g.93808891T>C	GRCh38
NC_000008.10:g.94821119T>C , CM000670.1:g.94821119T>C	GRCh37
NC_000008.9:g.94890295T>C	NCBI36
NG_009190.1:g.59048T>C , LRG_688:g.59048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2491T>C	ENSP00000314488.4:p.Phe831Leu
ENST00000409623.8:c.2446T>C	ENSP00000386966.4:p.Phe816Leu
ENST00000452276.6:c.2374T>C	ENSP00000388671.2:p.Phe792Leu
ENST00000453906.6:c.1609T>C	ENSP00000403035.2:p.Phe537Leu
ENST00000518896.2:c.782T>C	ENSP00000507992.1:n.782T>C
ENST00000520680.2:c.2614T>C	ENSP00000428785.2:p.Phe872Leu
ENST00000521517.6:c.2392T>C	ENSP00000430740.2:p.Phe798Leu
ENST00000681998.1:c.2312T>C	ENSP00000506773.1:n.2312T>C
ENST00000682036.1:c.1732T>C	ENSP00000508390.1:p.Phe578Leu
ENST00000682577.1:c.2264T>C	ENSP00000506963.1:n.2264T>C
ENST00000682624.1:c.*2065T>C	ENSP00000508343.1:n.*2065T>C
ENST00000682700.1:c.2491T>C	ENSP00000507627.1:p.Phe831Leu
ENST00000682744.1:n.2029T>C
ENST00000682804.1:n.2314T>C
ENST00000682837.1:c.1980T>C	ENSP00000507920.1:n.1980T>C
ENST00000682935.1:n.4541T>C
ENST00000682984.1:c.2152T>C	ENSP00000507209.1:p.Phe718Leu
ENST00000683078.1:c.2246T>C	ENSP00000506796.1:n.2246T>C
ENST00000683223.1:c.2223T>C	ENSP00000507685.1:n.2223T>C
ENST00000683238.1:n.3715T>C
ENST00000683249.1:n.4088T>C
ENST00000683336.1:c.2312T>C	ENSP00000507695.1:n.2312T>C
ENST00000683362.1:c.2152T>C	ENSP00000506985.1:p.Phe718Leu
ENST00000683850.1:n.2414T>C
ENST00000683919.1:c.2421T>C	ENSP00000507617.1:n.2421T>C
ENST00000683953.1:c.2402T>C	ENSP00000508375.1:n.2402T>C
ENST00000684023.1:c.2468T>C	ENSP00000507461.1:n.2468T>C
ENST00000684064.1:c.2182T>C	ENSP00000508192.1:p.Phe728Leu
ENST00000684089.1:n.4041T>C
ENST00000684149.1:c.*1670T>C	ENSP00000507943.1:n.*1670T>C
ENST00000684343.1:c.688T>C	ENSP00000507591.1:p.Phe230Leu
ENST00000684416.1:n.2450T>C
ENST00000684540.1:c.2421T>C	ENSP00000507987.1:n.2421T>C
ENST00000453321.8:c.2491T>C MANE Select	ENSP00000389998.3:p.Phe831Leu
ENST00000323130.7:c.2461T>C	ENSP00000314488.3:p.Phe821Leu
ENST00000409623.7:c.2248T>C	ENSP00000386966.3:p.Phe750Leu
ENST00000453321.7:c.2491T>C	ENSP00000389998.3:p.Phe831Leu
ENST00000474944.5:n.1629T>C
ENST00000519845.5:n.1223T>C
NM_001142301.1:c.2248T>C , LRG_688t2:c.2248T>C	NP_001135773.1:p.Phe750Leu
NM_153704.5:c.2491T>C , LRG_688t1:c.2491T>C	NP_714915.3:p.Phe831Leu
NR_024522.1:n.2562T>C
XM_006716686.2:c.2188T>C	XP_006716749.1:p.Phe730Leu
XM_006716687.2:c.1891T>C	XP_006716750.1:p.Phe631Leu
XM_011517363.1:c.1609T>C	XP_011515665.1:p.Phe537Leu
XR_428387.1:n.2549T>C
XR_928360.1:n.2549T>C
XR_928361.1:n.2549T>C
XR_928362.1:n.2549T>C
XM_006716686.4:c.2188T>C	XP_006716749.1:p.Phe730Leu
XM_011517363.3:c.1609T>C	XP_011515665.1:p.Phe537Leu
XM_024447326.1:c.1837T>C	XP_024303094.1:p.Phe613Leu
XR_001745619.2:n.2532T>C
XR_428387.2:n.2532T>C
XR_928360.3:n.2532T>C
XR_928362.3:n.2532T>C
NM_153704.6:c.2491T>C MANE Select	NP_714915.3:p.Phe831Leu
NR_024522.2:n.2512T>C