Canonical Allele Identifier: CA181345789

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1695719
• ClinVar RCV Id: RCV002265354
• dbSNP Id: rs139798663
• gnomAD v2: 8-94821108-A-G
• gnomAD v4: 8-93808880-A-G
• MyVariant Identifiers: chr8:g.94821108A>G (hg19) ; chr8:g.93808880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808880A>G , CM000670.2:g.93808880A>G	GRCh38
NC_000008.10:g.94821108A>G , CM000670.1:g.94821108A>G	GRCh37
NC_000008.9:g.94890284A>G	NCBI36
NG_009190.1:g.59037A>G , LRG_688:g.59037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2480A>G	ENSP00000314488.4:p.Asp827Gly
ENST00000409623.8:c.2435A>G	ENSP00000386966.4:p.Asp812Gly
ENST00000452276.6:c.2363A>G	ENSP00000388671.2:p.Asp788Gly
ENST00000453906.6:c.1598A>G	ENSP00000403035.2:p.Asp533Gly
ENST00000518896.2:c.771A>G	ENSP00000507992.1:n.771A>G
ENST00000520680.2:c.2603A>G	ENSP00000428785.2:p.Asp868Gly
ENST00000521517.6:c.2381A>G	ENSP00000430740.2:p.Asp794Gly
ENST00000681998.1:c.2301A>G	ENSP00000506773.1:n.2301A>G
ENST00000682036.1:c.1721A>G	ENSP00000508390.1:p.Asp574Gly
ENST00000682577.1:c.2253A>G	ENSP00000506963.1:n.2253A>G
ENST00000682624.1:c.*2054A>G	ENSP00000508343.1:n.*2054A>G
ENST00000682700.1:c.2480A>G	ENSP00000507627.1:p.Asp827Gly
ENST00000682744.1:n.2018A>G
ENST00000682804.1:n.2303A>G
ENST00000682837.1:c.1969A>G	ENSP00000507920.1:n.1969A>G
ENST00000682935.1:n.4530A>G
ENST00000682984.1:c.2141A>G	ENSP00000507209.1:p.Asp714Gly
ENST00000683078.1:c.2235A>G	ENSP00000506796.1:n.2235A>G
ENST00000683223.1:c.2212A>G	ENSP00000507685.1:n.2212A>G
ENST00000683238.1:n.3704A>G
ENST00000683249.1:n.4077A>G
ENST00000683336.1:c.2301A>G	ENSP00000507695.1:n.2301A>G
ENST00000683362.1:c.2141A>G	ENSP00000506985.1:p.Asp714Gly
ENST00000683850.1:n.2403A>G
ENST00000683919.1:c.2410A>G	ENSP00000507617.1:n.2410A>G
ENST00000683953.1:c.2391A>G	ENSP00000508375.1:n.2391A>G
ENST00000684023.1:c.2457A>G	ENSP00000507461.1:n.2457A>G
ENST00000684064.1:c.2171A>G	ENSP00000508192.1:p.Asp724Gly
ENST00000684089.1:n.4030A>G
ENST00000684149.1:c.*1659A>G	ENSP00000507943.1:n.*1659A>G
ENST00000684343.1:c.677A>G	ENSP00000507591.1:p.Asp226Gly
ENST00000684416.1:n.2439A>G
ENST00000684540.1:c.2410A>G	ENSP00000507987.1:n.2410A>G
ENST00000453321.8:c.2480A>G MANE Select	ENSP00000389998.3:p.Asp827Gly
ENST00000323130.7:c.2450A>G	ENSP00000314488.3:p.Asp817Gly
ENST00000409623.7:c.2237A>G	ENSP00000386966.3:p.Asp746Gly
ENST00000453321.7:c.2480A>G	ENSP00000389998.3:p.Asp827Gly
ENST00000474944.5:n.1618A>G
ENST00000519845.5:n.1212A>G
NM_001142301.1:c.2237A>G , LRG_688t2:c.2237A>G	NP_001135773.1:p.Asp746Gly
NM_153704.5:c.2480A>G , LRG_688t1:c.2480A>G	NP_714915.3:p.Asp827Gly
NR_024522.1:n.2551A>G
XM_006716686.2:c.2177A>G	XP_006716749.1:p.Asp726Gly
XM_006716687.2:c.1880A>G	XP_006716750.1:p.Asp627Gly
XM_011517363.1:c.1598A>G	XP_011515665.1:p.Asp533Gly
XR_428387.1:n.2538A>G
XR_928360.1:n.2538A>G
XR_928361.1:n.2538A>G
XR_928362.1:n.2538A>G
XM_006716686.4:c.2177A>G	XP_006716749.1:p.Asp726Gly
XM_011517363.3:c.1598A>G	XP_011515665.1:p.Asp533Gly
XM_024447326.1:c.1826A>G	XP_024303094.1:p.Asp609Gly
XR_001745619.2:n.2521A>G
XR_428387.2:n.2521A>G
XR_928360.3:n.2521A>G
XR_928362.3:n.2521A>G
NM_153704.6:c.2480A>G MANE Select	NP_714915.3:p.Asp827Gly
NR_024522.2:n.2501A>G