Canonical Allele Identifier: CA371685909

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2929937
• ClinVar RCV Id: RCV003787295
• dbSNP Id: rs1291015693
• gnomAD v2: 8-94770788-C-T
• gnomAD v3: 8-93758560-C-T
• gnomAD v4: 8-93758560-C-T
• MyVariant Identifiers: chr8:g.94770788C>T (hg19) ; chr8:g.93758560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758560C>T , CM000670.2:g.93758560C>T	GRCh38
NC_000008.10:g.94770788C>T , CM000670.1:g.94770788C>T	GRCh37
NC_000008.9:g.94839964C>T	NCBI36
NG_009190.1:g.8717C>T , LRG_688:g.8717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.390C>T	ENSP00000314488.4:p.Pro130=
ENST00000409623.8:c.390C>T	ENSP00000386966.4:p.Pro130=
ENST00000452276.6:c.390C>T	ENSP00000388671.2:p.Pro130=
ENST00000453906.6:c.390C>T	ENSP00000403035.2:p.Pro130=
ENST00000520680.2:c.390C>T	ENSP00000428785.2:p.Pro130=
ENST00000521065.2:c.390C>T	ENSP00000427947.2:p.Pro130=
ENST00000521517.6:c.390C>T	ENSP00000430740.2:p.Pro130=
ENST00000681998.1:c.390C>T	ENSP00000506773.1:p.Pro130=
ENST00000682036.1:c.390C>T	ENSP00000508390.1:p.Pro130=
ENST00000682577.1:c.390C>T	ENSP00000506963.1:p.Pro130=
ENST00000682624.1:c.*34C>T	ENSP00000508343.1:n.*34C>T
ENST00000682700.1:c.390C>T	ENSP00000507627.1:p.Pro130=
ENST00000682804.1:n.283C>T
ENST00000682837.1:c.390C>T	ENSP00000507920.1:p.Pro130=
ENST00000682935.1:n.390C>T
ENST00000682984.1:c.312+2694C>T	ENSP00000507209.1:n.312+2694C>T
ENST00000683078.1:c.390C>T	ENSP00000506796.1:p.Pro130=
ENST00000683223.1:c.301C>T	ENSP00000507685.1:n.301C>T
ENST00000683238.1:n.211C>T
ENST00000683249.1:n.411C>T
ENST00000683336.1:c.390C>T	ENSP00000507695.1:p.Pro130=
ENST00000683362.1:c.312+2694C>T	ENSP00000506985.1:n.312+2694C>T
ENST00000683850.1:n.313C>T
ENST00000683919.1:c.390C>T	ENSP00000507617.1:p.Pro130=
ENST00000683953.1:c.301C>T	ENSP00000508375.1:n.301C>T
ENST00000684023.1:c.390C>T	ENSP00000507461.1:p.Pro130=
ENST00000684064.1:c.81C>T	ENSP00000508192.1:p.Pro27=
ENST00000684089.1:n.380C>T
ENST00000684149.1:c.390C>T	ENSP00000507943.1:p.Pro130=
ENST00000684416.1:n.215C>T
ENST00000684540.1:c.390C>T	ENSP00000507987.1:p.Pro130=
ENST00000684733.1:n.325C>T
ENST00000453321.8:c.390C>T MANE Select	ENSP00000389998.3:p.Pro130=
ENST00000323130.7:c.360C>T	ENSP00000314488.3:p.Pro120=
ENST00000409623.7:c.13C>T	ENSP00000386966.3:p.His5Tyr
ENST00000452276.5:c.81C>T	ENSP00000388671.1:p.Pro27=
ENST00000453321.7:c.390C>T	ENSP00000389998.3:p.Pro130=
ENST00000453906.5:c.390C>T	ENSP00000403035.1:p.Pro130=
ENST00000455946.5:c.390C>T	ENSP00000416339.1:p.Pro130=
ENST00000474944.5:n.410C>T
ENST00000475305.1:n.399C>T
ENST00000498673.5:c.-91C>T	ENSP00000430232.1:n.-91C>T
ENST00000518319.5:c.-130C>T	ENSP00000430289.1:n.-130C>T
ENST00000521065.1:c.296C>T
ENST00000521222.5:c.*26C>T	ENSP00000429925.1:n.*26C>T
ENST00000521517.5:c.382C>T
NM_001142301.1:c.13C>T , LRG_688t2:c.13C>T	NP_001135773.1:p.His5Tyr
NM_153704.5:c.390C>T , LRG_688t1:c.390C>T	NP_714915.3:p.Pro130=
NR_024522.1:n.461C>T
XM_006716686.2:c.87C>T	XP_006716749.1:p.Pro29=
XM_011517363.1:c.390C>T	XP_011515665.1:p.Pro130=
XR_428387.1:n.448C>T
XR_928360.1:n.448C>T
XR_928361.1:n.448C>T
XR_928362.1:n.448C>T
XM_006716686.4:c.87C>T	XP_006716749.1:p.Pro29=
XM_011517363.3:c.390C>T	XP_011515665.1:p.Pro130=
XM_024447326.1:c.-20C>T	XP_024303094.1:n.-20C>T
XR_001745619.2:n.431C>T
XR_428387.2:n.431C>T
XR_928360.3:n.431C>T
XR_928362.3:n.431C>T
NM_153704.6:c.390C>T MANE Select	NP_714915.3:p.Pro130=
NR_024522.2:n.411C>T