Canonical Allele Identifier: CA371685957

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 917961
• ClinVar RCV Id: RCV001175228
• dbSNP Id: rs1812685381
• MyVariant Identifiers: chr8:g.94770804G>C (hg19) ; chr8:g.93758576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758576G>C , CM000670.2:g.93758576G>C	GRCh38
NC_000008.10:g.94770804G>C , CM000670.1:g.94770804G>C	GRCh37
NC_000008.9:g.94839980G>C	NCBI36
NG_009190.1:g.8733G>C , LRG_688:g.8733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406G>C	ENSP00000314488.4:p.Val136Leu
ENST00000409623.8:c.406G>C	ENSP00000386966.4:p.Val136Leu
ENST00000452276.6:c.406G>C	ENSP00000388671.2:p.Val136Leu
ENST00000453906.6:c.406G>C	ENSP00000403035.2:p.Asp136His
ENST00000520680.2:c.406G>C	ENSP00000428785.2:p.Val136Leu
ENST00000521065.2:c.406G>C	ENSP00000427947.2:p.Gly136Arg
ENST00000521517.6:c.406G>C	ENSP00000430740.2:p.Val136Leu
ENST00000681998.1:c.406G>C	ENSP00000506773.1:p.Val136Leu
ENST00000682036.1:c.406G>C	ENSP00000508390.1:p.Asp136His
ENST00000682577.1:c.406G>C	ENSP00000506963.1:p.Val136Leu
ENST00000682624.1:c.*50G>C	ENSP00000508343.1:n.*50G>C
ENST00000682700.1:c.406G>C	ENSP00000507627.1:p.Val136Leu
ENST00000682804.1:n.299G>C
ENST00000682837.1:c.406G>C	ENSP00000507920.1:p.Gly136Arg
ENST00000682935.1:n.406G>C
ENST00000682984.1:c.312+2710G>C	ENSP00000507209.1:n.312+2710G>C
ENST00000683078.1:c.406G>C	ENSP00000506796.1:p.Gly136Arg
ENST00000683223.1:c.317G>C	ENSP00000507685.1:n.317G>C
ENST00000683238.1:n.227G>C
ENST00000683249.1:n.427G>C
ENST00000683336.1:c.406G>C	ENSP00000507695.1:p.Val136Leu
ENST00000683362.1:c.312+2710G>C	ENSP00000506985.1:n.312+2710G>C
ENST00000683850.1:n.329G>C
ENST00000683919.1:c.406G>C	ENSP00000507617.1:p.Val136Leu
ENST00000683953.1:c.317G>C	ENSP00000508375.1:n.317G>C
ENST00000684023.1:c.406G>C	ENSP00000507461.1:p.Gly136Arg
ENST00000684064.1:c.97G>C	ENSP00000508192.1:p.Val33Leu
ENST00000684089.1:n.396G>C
ENST00000684149.1:c.406G>C	ENSP00000507943.1:p.Val136Leu
ENST00000684416.1:n.231G>C
ENST00000684540.1:c.406G>C	ENSP00000507987.1:p.Val136Leu
ENST00000684733.1:n.341G>C
ENST00000453321.8:c.406G>C MANE Select	ENSP00000389998.3:p.Val136Leu
ENST00000323130.7:c.376G>C	ENSP00000314488.3:p.Val126Leu
ENST00000409623.7:c.29G>C	ENSP00000386966.3:p.Arg10Thr
ENST00000452276.5:c.97G>C	ENSP00000388671.1:p.Val33Leu
ENST00000453321.7:c.406G>C	ENSP00000389998.3:p.Val136Leu
ENST00000453906.5:c.406G>C	ENSP00000403035.1:p.Asp136His
ENST00000455946.5:c.406G>C	ENSP00000416339.1:p.Gly136Arg
ENST00000474944.5:n.426G>C
ENST00000475305.1:n.415G>C
ENST00000498673.5:c.-75G>C	ENSP00000430232.1:n.-75G>C
ENST00000518319.5:c.-114G>C	ENSP00000430289.1:n.-114G>C
ENST00000521065.1:c.312G>C
ENST00000521222.5:c.*42G>C	ENSP00000429925.1:n.*42G>C
ENST00000521517.5:c.398G>C
NM_001142301.1:c.29G>C , LRG_688t2:c.29G>C	NP_001135773.1:p.Arg10Thr
NM_153704.5:c.406G>C , LRG_688t1:c.406G>C	NP_714915.3:p.Val136Leu
NR_024522.1:n.477G>C
XM_006716686.2:c.103G>C	XP_006716749.1:p.Val35Leu
XM_011517363.1:c.406G>C	XP_011515665.1:p.Asp136His
XR_428387.1:n.464G>C
XR_928360.1:n.464G>C
XR_928361.1:n.464G>C
XR_928362.1:n.464G>C
XM_006716686.4:c.103G>C	XP_006716749.1:p.Val35Leu
XM_011517363.3:c.406G>C	XP_011515665.1:p.Asp136His
XM_024447326.1:c.-4G>C	XP_024303094.1:n.-4G>C
XR_001745619.2:n.447G>C
XR_428387.2:n.447G>C
XR_928360.3:n.447G>C
XR_928362.3:n.447G>C
NM_153704.6:c.406G>C MANE Select	NP_714915.3:p.Val136Leu
NR_024522.2:n.427G>C