Canonical Allele Identifier: CA4807496

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 363916
• ClinVar RCV Id: RCV000302454 ; RCV000341063 ; RCV000397407 ; RCV002523703 ; RCV002488815
• dbSNP Id: rs146838062
• ExAC: 8:94767171 C / T
• gnomAD v2: 8-94767171-C-T
• gnomAD v3: 8-93754943-C-T
• gnomAD v4: 8-93754943-C-T
• COSMIC: COSM1314269 ; COSM1314270
• MyVariant Identifiers: chr8:g.94767171C>T (hg19) ; chr8:g.93754943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93754943C>T , CM000670.2:g.93754943C>T	GRCh38
NC_000008.10:g.94767171C>T , CM000670.1:g.94767171C>T	GRCh37
NC_000008.9:g.94836347C>T	NCBI36
NG_009190.1:g.5100C>T , LRG_688:g.5100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.29C>T	ENSP00000314488.4:p.Ala10Val
ENST00000409623.8:c.29C>T	ENSP00000386966.4:p.Ala10Val
ENST00000452276.6:c.29C>T	ENSP00000388671.2:p.Ala10Val
ENST00000453906.6:c.29C>T	ENSP00000403035.2:p.Ala10Val
ENST00000520680.2:c.29C>T	ENSP00000428785.2:p.Ala10Val
ENST00000521065.2:c.29C>T	ENSP00000427947.2:p.Ala10Val
ENST00000521517.6:c.29C>T	ENSP00000430740.2:p.Ala10Val
ENST00000681998.1:c.29C>T	ENSP00000506773.1:p.Ala10Val
ENST00000682036.1:c.29C>T	ENSP00000508390.1:p.Ala10Val
ENST00000682577.1:c.29C>T	ENSP00000506963.1:p.Ala10Val
ENST00000682624.1:c.29C>T	ENSP00000508343.1:p.Ala10Val
ENST00000682700.1:c.29C>T	ENSP00000507627.1:p.Ala10Val
ENST00000682804.1:n.25+34C>T
ENST00000682837.1:c.29C>T	ENSP00000507920.1:p.Ala10Val
ENST00000682935.1:n.29C>T
ENST00000682984.1:c.29C>T	ENSP00000507209.1:p.Ala10Val
ENST00000683078.1:c.29C>T	ENSP00000506796.1:p.Ala10Val
ENST00000683223.1:c.29C>T	ENSP00000507685.1:p.Ala10Val
ENST00000683249.1:n.50C>T
ENST00000683336.1:c.29C>T	ENSP00000507695.1:p.Ala10Val
ENST00000683362.1:c.29C>T	ENSP00000506985.1:p.Ala10Val
ENST00000683919.1:c.29C>T	ENSP00000507617.1:p.Ala10Val
ENST00000683953.1:c.29C>T	ENSP00000508375.1:p.Ala10Val
ENST00000684023.1:c.29C>T	ENSP00000507461.1:p.Ala10Val
ENST00000684064.1:c.-205+34C>T	ENSP00000508192.1:n.-205+34C>T
ENST00000684089.1:n.19C>T
ENST00000684149.1:c.29C>T	ENSP00000507943.1:p.Ala10Val
ENST00000684416.1:n.23+34C>T
ENST00000684540.1:c.29C>T	ENSP00000507987.1:p.Ala10Val
ENST00000684733.1:n.53C>T
ENST00000453321.8:c.29C>T MANE Select	ENSP00000389998.3:p.Ala10Val
ENST00000323130.7:c.-2C>T	ENSP00000314488.3:n.-2C>T
ENST00000409623.7:c.-180+34C>T	ENSP00000386966.3:n.-180+34C>T
ENST00000452276.5:c.-205+34C>T	ENSP00000388671.1:n.-205+34C>T
ENST00000453321.7:c.29C>T	ENSP00000389998.3:p.Ala10Val
ENST00000453906.5:c.29C>T	ENSP00000403035.1:p.Ala10Val
ENST00000455946.5:c.29C>T	ENSP00000416339.1:p.Ala10Val
ENST00000474944.5:n.49C>T
ENST00000475305.1:n.38C>T
ENST00000481620.1:n.32C>T
ENST00000498673.5:c.-418+34C>T	ENSP00000430232.1:n.-418+34C>T
ENST00000518319.5:c.-411+34C>T	ENSP00000430289.1:n.-411+34C>T
ENST00000521065.1:c.24C>T
ENST00000521222.5:c.29C>T	ENSP00000429925.1:p.Ala10Val
ENST00000521517.5:c.21C>T
NM_001142301.1:c.-180+34C>T , LRG_688t2:c.-180+34C>T	NP_001135773.1:n.-180+34C>T
NM_153704.5:c.29C>T , LRG_688t1:c.29C>T	NP_714915.3:p.Ala10Val
NR_024522.1:n.100C>T
XM_006716686.2:c.-186C>T	XP_006716749.1:n.-186C>T
XM_011517363.1:c.29C>T	XP_011515665.1:p.Ala10Val
XR_428387.1:n.87C>T
XR_928360.1:n.87C>T
XR_928361.1:n.87C>T
XR_928362.1:n.87C>T
XM_006716686.4:c.-186C>T	XP_006716749.1:n.-186C>T
XM_011517363.3:c.29C>T	XP_011515665.1:p.Ala10Val
XM_024447326.1:c.-381C>T	XP_024303094.1:n.-381C>T
XR_001745619.2:n.70C>T
XR_428387.2:n.70C>T
XR_928360.3:n.70C>T
XR_928362.3:n.70C>T
NM_153704.6:c.29C>T MANE Select	NP_714915.3:p.Ala10Val
NR_024522.2:n.50C>T