Canonical Allele Identifier: CA371685871

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1355132
• ClinVar RCV Id: RCV001866767
• dbSNP Id: rs2130545126
• MyVariant Identifiers: chr8:g.94770774A>C (hg19) ; chr8:g.93758546A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758546A>C , CM000670.2:g.93758546A>C	GRCh38
NC_000008.10:g.94770774A>C , CM000670.1:g.94770774A>C	GRCh37
NC_000008.9:g.94839950A>C	NCBI36
NG_009190.1:g.8703A>C , LRG_688:g.8703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.376A>C	ENSP00000314488.4:p.Lys126Gln
ENST00000409623.8:c.376A>C	ENSP00000386966.4:p.Lys126Gln
ENST00000452276.6:c.376A>C	ENSP00000388671.2:p.Lys126Gln
ENST00000453906.6:c.376A>C	ENSP00000403035.2:p.Lys126Gln
ENST00000520680.2:c.376A>C	ENSP00000428785.2:p.Lys126Gln
ENST00000521065.2:c.376A>C	ENSP00000427947.2:p.Lys126Gln
ENST00000521517.6:c.376A>C	ENSP00000430740.2:p.Lys126Gln
ENST00000681998.1:c.376A>C	ENSP00000506773.1:p.Lys126Gln
ENST00000682036.1:c.376A>C	ENSP00000508390.1:p.Lys126Gln
ENST00000682577.1:c.376A>C	ENSP00000506963.1:p.Lys126Gln
ENST00000682624.1:c.*20A>C	ENSP00000508343.1:n.*20A>C
ENST00000682700.1:c.376A>C	ENSP00000507627.1:p.Lys126Gln
ENST00000682804.1:n.269A>C
ENST00000682837.1:c.376A>C	ENSP00000507920.1:p.Lys126Gln
ENST00000682935.1:n.376A>C
ENST00000682984.1:c.312+2680A>C	ENSP00000507209.1:n.312+2680A>C
ENST00000683078.1:c.376A>C	ENSP00000506796.1:p.Lys126Gln
ENST00000683223.1:c.287A>C	ENSP00000507685.1:n.287A>C
ENST00000683238.1:n.197A>C
ENST00000683249.1:n.397A>C
ENST00000683336.1:c.376A>C	ENSP00000507695.1:p.Lys126Gln
ENST00000683362.1:c.312+2680A>C	ENSP00000506985.1:n.312+2680A>C
ENST00000683850.1:n.299A>C
ENST00000683919.1:c.376A>C	ENSP00000507617.1:p.Lys126Gln
ENST00000683953.1:c.287A>C	ENSP00000508375.1:n.287A>C
ENST00000684023.1:c.376A>C	ENSP00000507461.1:p.Lys126Gln
ENST00000684064.1:c.67A>C	ENSP00000508192.1:p.Lys23Gln
ENST00000684089.1:n.366A>C
ENST00000684149.1:c.376A>C	ENSP00000507943.1:p.Lys126Gln
ENST00000684416.1:n.201A>C
ENST00000684540.1:c.376A>C	ENSP00000507987.1:p.Lys126Gln
ENST00000684733.1:n.311A>C
ENST00000453321.8:c.376A>C MANE Select	ENSP00000389998.3:p.Lys126Gln
ENST00000323130.7:c.346A>C	ENSP00000314488.3:p.Lys116Gln
ENST00000409623.7:c.-2A>C	ENSP00000386966.3:n.-2A>C
ENST00000452276.5:c.67A>C	ENSP00000388671.1:p.Lys23Gln
ENST00000453321.7:c.376A>C	ENSP00000389998.3:p.Lys126Gln
ENST00000453906.5:c.376A>C	ENSP00000403035.1:p.Lys126Gln
ENST00000455946.5:c.376A>C	ENSP00000416339.1:p.Lys126Gln
ENST00000474944.5:n.396A>C
ENST00000475305.1:n.385A>C
ENST00000498673.5:c.-105A>C	ENSP00000430232.1:n.-105A>C
ENST00000518319.5:c.-144A>C	ENSP00000430289.1:n.-144A>C
ENST00000521065.1:c.282A>C
ENST00000521222.5:c.*12A>C	ENSP00000429925.1:n.*12A>C
ENST00000521517.5:c.368A>C
NM_001142301.1:c.-2A>C , LRG_688t2:c.-2A>C	NP_001135773.1:n.-2A>C
NM_153704.5:c.376A>C , LRG_688t1:c.376A>C	NP_714915.3:p.Lys126Gln
NR_024522.1:n.447A>C
XM_006716686.2:c.73A>C	XP_006716749.1:p.Lys25Gln
XM_011517363.1:c.376A>C	XP_011515665.1:p.Lys126Gln
XR_428387.1:n.434A>C
XR_928360.1:n.434A>C
XR_928361.1:n.434A>C
XR_928362.1:n.434A>C
XM_006716686.4:c.73A>C	XP_006716749.1:p.Lys25Gln
XM_011517363.3:c.376A>C	XP_011515665.1:p.Lys126Gln
XM_024447326.1:c.-34A>C	XP_024303094.1:n.-34A>C
XR_001745619.2:n.417A>C
XR_428387.2:n.417A>C
XR_928360.3:n.417A>C
XR_928362.3:n.417A>C
NM_153704.6:c.376A>C MANE Select	NP_714915.3:p.Lys126Gln
NR_024522.2:n.397A>C