Canonical Allele Identifier: CA371698868

Gene: TMEM67

Linked Data

• dbSNP Id: rs886038738
• gnomAD v4: 8-93808848-G-T
• MyVariant Identifiers: chr8:g.94821076G>T (hg19) ; chr8:g.93808848G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808848G>T , CM000670.2:g.93808848G>T	GRCh38
NC_000008.10:g.94821076G>T , CM000670.1:g.94821076G>T	GRCh37
NC_000008.9:g.94890252G>T	NCBI36
NG_009190.1:g.59005G>T , LRG_688:g.59005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2448G>T	ENSP00000314488.4:p.Leu816Phe
ENST00000409623.8:c.2403G>T	ENSP00000386966.4:p.Leu801Phe
ENST00000452276.6:c.2331G>T	ENSP00000388671.2:p.Leu777Phe
ENST00000453906.6:c.1566G>T	ENSP00000403035.2:p.Leu522Phe
ENST00000518896.2:c.739G>T	ENSP00000507992.1:n.739G>T
ENST00000520680.2:c.2571G>T	ENSP00000428785.2:p.Leu857Phe
ENST00000521517.6:c.2349G>T	ENSP00000430740.2:p.Leu783Phe
ENST00000681998.1:c.2269G>T	ENSP00000506773.1:n.2269G>T
ENST00000682036.1:c.1689G>T	ENSP00000508390.1:p.Leu563Phe
ENST00000682577.1:c.2221G>T	ENSP00000506963.1:n.2221G>T
ENST00000682624.1:c.*2022G>T	ENSP00000508343.1:n.*2022G>T
ENST00000682700.1:c.2448G>T	ENSP00000507627.1:p.Leu816Phe
ENST00000682744.1:n.1986G>T
ENST00000682804.1:n.2271G>T
ENST00000682837.1:c.1937G>T	ENSP00000507920.1:n.1937G>T
ENST00000682935.1:n.4498G>T
ENST00000682984.1:c.2109G>T	ENSP00000507209.1:p.Leu703Phe
ENST00000683078.1:c.2203G>T	ENSP00000506796.1:n.2203G>T
ENST00000683223.1:c.2180G>T	ENSP00000507685.1:n.2180G>T
ENST00000683238.1:n.3672G>T
ENST00000683249.1:n.4045G>T
ENST00000683336.1:c.2269G>T	ENSP00000507695.1:n.2269G>T
ENST00000683362.1:c.2109G>T	ENSP00000506985.1:p.Leu703Phe
ENST00000683850.1:n.2371G>T
ENST00000683919.1:c.2378G>T	ENSP00000507617.1:n.2378G>T
ENST00000683953.1:c.2359G>T	ENSP00000508375.1:n.2359G>T
ENST00000684023.1:c.2425G>T	ENSP00000507461.1:n.2425G>T
ENST00000684064.1:c.2139G>T	ENSP00000508192.1:p.Leu713Phe
ENST00000684089.1:n.3998G>T
ENST00000684149.1:c.*1627G>T	ENSP00000507943.1:n.*1627G>T
ENST00000684343.1:c.645G>T	ENSP00000507591.1:p.Leu215Phe
ENST00000684416.1:n.2407G>T
ENST00000684540.1:c.2378G>T	ENSP00000507987.1:n.2378G>T
ENST00000453321.8:c.2448G>T MANE Select	ENSP00000389998.3:p.Leu816Phe
ENST00000323130.7:c.2418G>T	ENSP00000314488.3:p.Leu806Phe
ENST00000409623.7:c.2205G>T	ENSP00000386966.3:p.Leu735Phe
ENST00000453321.7:c.2448G>T	ENSP00000389998.3:p.Leu816Phe
ENST00000474944.5:n.1586G>T
ENST00000519845.5:n.1180G>T
NM_001142301.1:c.2205G>T , LRG_688t2:c.2205G>T	NP_001135773.1:p.Leu735Phe
NM_153704.5:c.2448G>T , LRG_688t1:c.2448G>T	NP_714915.3:p.Leu816Phe
NR_024522.1:n.2519G>T
XM_006716686.2:c.2145G>T	XP_006716749.1:p.Leu715Phe
XM_006716687.2:c.1848G>T	XP_006716750.1:p.Leu616Phe
XM_011517363.1:c.1566G>T	XP_011515665.1:p.Leu522Phe
XR_428387.1:n.2506G>T
XR_928360.1:n.2506G>T
XR_928361.1:n.2506G>T
XR_928362.1:n.2506G>T
XM_006716686.4:c.2145G>T	XP_006716749.1:p.Leu715Phe
XM_011517363.3:c.1566G>T	XP_011515665.1:p.Leu522Phe
XM_024447326.1:c.1794G>T	XP_024303094.1:p.Leu598Phe
XR_001745619.2:n.2489G>T
XR_428387.2:n.2489G>T
XR_928360.3:n.2489G>T
XR_928362.3:n.2489G>T
NM_153704.6:c.2448G>T MANE Select	NP_714915.3:p.Leu816Phe
NR_024522.2:n.2469G>T