Canonical Allele Identifier: CA371698946

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 3179616
• ClinVar RCV Id: RCV004470450
• gnomAD v4: 8-93808871-C-G
• MyVariant Identifiers: chr8:g.94821099C>G (hg19) ; chr8:g.93808871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808871C>G , CM000670.2:g.93808871C>G	GRCh38
NC_000008.10:g.94821099C>G , CM000670.1:g.94821099C>G	GRCh37
NC_000008.9:g.94890275C>G	NCBI36
NG_009190.1:g.59028C>G , LRG_688:g.59028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2471C>G	ENSP00000314488.4:p.Pro824Arg
ENST00000409623.8:c.2426C>G	ENSP00000386966.4:p.Pro809Arg
ENST00000452276.6:c.2354C>G	ENSP00000388671.2:p.Pro785Arg
ENST00000453906.6:c.1589C>G	ENSP00000403035.2:p.Pro530Arg
ENST00000518896.2:c.762C>G	ENSP00000507992.1:n.762C>G
ENST00000520680.2:c.2594C>G	ENSP00000428785.2:p.Pro865Arg
ENST00000521517.6:c.2372C>G	ENSP00000430740.2:p.Pro791Arg
ENST00000681998.1:c.2292C>G	ENSP00000506773.1:n.2292C>G
ENST00000682036.1:c.1712C>G	ENSP00000508390.1:p.Pro571Arg
ENST00000682577.1:c.2244C>G	ENSP00000506963.1:n.2244C>G
ENST00000682624.1:c.*2045C>G	ENSP00000508343.1:n.*2045C>G
ENST00000682700.1:c.2471C>G	ENSP00000507627.1:p.Pro824Arg
ENST00000682744.1:n.2009C>G
ENST00000682804.1:n.2294C>G
ENST00000682837.1:c.1960C>G	ENSP00000507920.1:n.1960C>G
ENST00000682935.1:n.4521C>G
ENST00000682984.1:c.2132C>G	ENSP00000507209.1:p.Pro711Arg
ENST00000683078.1:c.2226C>G	ENSP00000506796.1:n.2226C>G
ENST00000683223.1:c.2203C>G	ENSP00000507685.1:n.2203C>G
ENST00000683238.1:n.3695C>G
ENST00000683249.1:n.4068C>G
ENST00000683336.1:c.2292C>G	ENSP00000507695.1:n.2292C>G
ENST00000683362.1:c.2132C>G	ENSP00000506985.1:p.Pro711Arg
ENST00000683850.1:n.2394C>G
ENST00000683919.1:c.2401C>G	ENSP00000507617.1:n.2401C>G
ENST00000683953.1:c.2382C>G	ENSP00000508375.1:n.2382C>G
ENST00000684023.1:c.2448C>G	ENSP00000507461.1:n.2448C>G
ENST00000684064.1:c.2162C>G	ENSP00000508192.1:p.Pro721Arg
ENST00000684089.1:n.4021C>G
ENST00000684149.1:c.*1650C>G	ENSP00000507943.1:n.*1650C>G
ENST00000684343.1:c.668C>G	ENSP00000507591.1:p.Pro223Arg
ENST00000684416.1:n.2430C>G
ENST00000684540.1:c.2401C>G	ENSP00000507987.1:n.2401C>G
ENST00000453321.8:c.2471C>G MANE Select	ENSP00000389998.3:p.Pro824Arg
ENST00000323130.7:c.2441C>G	ENSP00000314488.3:p.Pro814Arg
ENST00000409623.7:c.2228C>G	ENSP00000386966.3:p.Pro743Arg
ENST00000453321.7:c.2471C>G	ENSP00000389998.3:p.Pro824Arg
ENST00000474944.5:n.1609C>G
ENST00000519845.5:n.1203C>G
NM_001142301.1:c.2228C>G , LRG_688t2:c.2228C>G	NP_001135773.1:p.Pro743Arg
NM_153704.5:c.2471C>G , LRG_688t1:c.2471C>G	NP_714915.3:p.Pro824Arg
NR_024522.1:n.2542C>G
XM_006716686.2:c.2168C>G	XP_006716749.1:p.Pro723Arg
XM_006716687.2:c.1871C>G	XP_006716750.1:p.Pro624Arg
XM_011517363.1:c.1589C>G	XP_011515665.1:p.Pro530Arg
XR_428387.1:n.2529C>G
XR_928360.1:n.2529C>G
XR_928361.1:n.2529C>G
XR_928362.1:n.2529C>G
XM_006716686.4:c.2168C>G	XP_006716749.1:p.Pro723Arg
XM_011517363.3:c.1589C>G	XP_011515665.1:p.Pro530Arg
XM_024447326.1:c.1817C>G	XP_024303094.1:p.Pro606Arg
XR_001745619.2:n.2512C>G
XR_428387.2:n.2512C>G
XR_928360.3:n.2512C>G
XR_928362.3:n.2512C>G
NM_153704.6:c.2471C>G MANE Select	NP_714915.3:p.Pro824Arg
NR_024522.2:n.2492C>G