Canonical Allele Identifier: CA371698953

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808873-A-G
• MyVariant Identifiers: chr8:g.94821101A>G (hg19) ; chr8:g.93808873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808873A>G , CM000670.2:g.93808873A>G	GRCh38
NC_000008.10:g.94821101A>G , CM000670.1:g.94821101A>G	GRCh37
NC_000008.9:g.94890277A>G	NCBI36
NG_009190.1:g.59030A>G , LRG_688:g.59030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2473A>G	ENSP00000314488.4:p.Asn825Asp
ENST00000409623.8:c.2428A>G	ENSP00000386966.4:p.Asn810Asp
ENST00000452276.6:c.2356A>G	ENSP00000388671.2:p.Asn786Asp
ENST00000453906.6:c.1591A>G	ENSP00000403035.2:p.Asn531Asp
ENST00000518896.2:c.764A>G	ENSP00000507992.1:n.764A>G
ENST00000520680.2:c.2596A>G	ENSP00000428785.2:p.Asn866Asp
ENST00000521517.6:c.2374A>G	ENSP00000430740.2:p.Asn792Asp
ENST00000681998.1:c.2294A>G	ENSP00000506773.1:n.2294A>G
ENST00000682036.1:c.1714A>G	ENSP00000508390.1:p.Asn572Asp
ENST00000682577.1:c.2246A>G	ENSP00000506963.1:n.2246A>G
ENST00000682624.1:c.*2047A>G	ENSP00000508343.1:n.*2047A>G
ENST00000682700.1:c.2473A>G	ENSP00000507627.1:p.Asn825Asp
ENST00000682744.1:n.2011A>G
ENST00000682804.1:n.2296A>G
ENST00000682837.1:c.1962A>G	ENSP00000507920.1:n.1962A>G
ENST00000682935.1:n.4523A>G
ENST00000682984.1:c.2134A>G	ENSP00000507209.1:p.Asn712Asp
ENST00000683078.1:c.2228A>G	ENSP00000506796.1:n.2228A>G
ENST00000683223.1:c.2205A>G	ENSP00000507685.1:n.2205A>G
ENST00000683238.1:n.3697A>G
ENST00000683249.1:n.4070A>G
ENST00000683336.1:c.2294A>G	ENSP00000507695.1:n.2294A>G
ENST00000683362.1:c.2134A>G	ENSP00000506985.1:p.Asn712Asp
ENST00000683850.1:n.2396A>G
ENST00000683919.1:c.2403A>G	ENSP00000507617.1:n.2403A>G
ENST00000683953.1:c.2384A>G	ENSP00000508375.1:n.2384A>G
ENST00000684023.1:c.2450A>G	ENSP00000507461.1:n.2450A>G
ENST00000684064.1:c.2164A>G	ENSP00000508192.1:p.Asn722Asp
ENST00000684089.1:n.4023A>G
ENST00000684149.1:c.*1652A>G	ENSP00000507943.1:n.*1652A>G
ENST00000684343.1:c.670A>G	ENSP00000507591.1:p.Asn224Asp
ENST00000684416.1:n.2432A>G
ENST00000684540.1:c.2403A>G	ENSP00000507987.1:n.2403A>G
ENST00000453321.8:c.2473A>G MANE Select	ENSP00000389998.3:p.Asn825Asp
ENST00000323130.7:c.2443A>G	ENSP00000314488.3:p.Asn815Asp
ENST00000409623.7:c.2230A>G	ENSP00000386966.3:p.Asn744Asp
ENST00000453321.7:c.2473A>G	ENSP00000389998.3:p.Asn825Asp
ENST00000474944.5:n.1611A>G
ENST00000519845.5:n.1205A>G
NM_001142301.1:c.2230A>G , LRG_688t2:c.2230A>G	NP_001135773.1:p.Asn744Asp
NM_153704.5:c.2473A>G , LRG_688t1:c.2473A>G	NP_714915.3:p.Asn825Asp
NR_024522.1:n.2544A>G
XM_006716686.2:c.2170A>G	XP_006716749.1:p.Asn724Asp
XM_006716687.2:c.1873A>G	XP_006716750.1:p.Asn625Asp
XM_011517363.1:c.1591A>G	XP_011515665.1:p.Asn531Asp
XR_428387.1:n.2531A>G
XR_928360.1:n.2531A>G
XR_928361.1:n.2531A>G
XR_928362.1:n.2531A>G
XM_006716686.4:c.2170A>G	XP_006716749.1:p.Asn724Asp
XM_011517363.3:c.1591A>G	XP_011515665.1:p.Asn531Asp
XM_024447326.1:c.1819A>G	XP_024303094.1:p.Asn607Asp
XR_001745619.2:n.2514A>G
XR_428387.2:n.2514A>G
XR_928360.3:n.2514A>G
XR_928362.3:n.2514A>G
NM_153704.6:c.2473A>G MANE Select	NP_714915.3:p.Asn825Asp
NR_024522.2:n.2494A>G