Canonical Allele Identifier: CA371685793

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93758511-G-A
• MyVariant Identifiers: chr8:g.94770739G>A (hg19) ; chr8:g.93758511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758511G>A , CM000670.2:g.93758511G>A	GRCh38
NC_000008.10:g.94770739G>A , CM000670.1:g.94770739G>A	GRCh37
NC_000008.9:g.94839915G>A	NCBI36
NG_009190.1:g.8668G>A , LRG_688:g.8668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.341G>A	ENSP00000314488.4:p.Cys114Tyr
ENST00000409623.8:c.341G>A	ENSP00000386966.4:p.Cys114Tyr
ENST00000452276.6:c.341G>A	ENSP00000388671.2:p.Cys114Tyr
ENST00000453906.6:c.341G>A	ENSP00000403035.2:p.Cys114Tyr
ENST00000520680.2:c.341G>A	ENSP00000428785.2:p.Cys114Tyr
ENST00000521065.2:c.341G>A	ENSP00000427947.2:p.Cys114Tyr
ENST00000521517.6:c.341G>A	ENSP00000430740.2:p.Cys114Tyr
ENST00000681998.1:c.341G>A	ENSP00000506773.1:p.Cys114Tyr
ENST00000682036.1:c.341G>A	ENSP00000508390.1:p.Cys114Tyr
ENST00000682577.1:c.341G>A	ENSP00000506963.1:p.Cys114Tyr
ENST00000682624.1:c.252G>A	ENSP00000508343.1:p.Leu84=
ENST00000682700.1:c.341G>A	ENSP00000507627.1:p.Cys114Tyr
ENST00000682804.1:n.234G>A
ENST00000682837.1:c.341G>A	ENSP00000507920.1:p.Cys114Tyr
ENST00000682935.1:n.341G>A
ENST00000682984.1:c.312+2645G>A	ENSP00000507209.1:n.312+2645G>A
ENST00000683078.1:c.341G>A	ENSP00000506796.1:p.Cys114Tyr
ENST00000683223.1:c.252G>A	ENSP00000507685.1:p.Leu84=
ENST00000683238.1:n.162G>A
ENST00000683249.1:n.362G>A
ENST00000683336.1:c.341G>A	ENSP00000507695.1:p.Cys114Tyr
ENST00000683362.1:c.312+2645G>A	ENSP00000506985.1:n.312+2645G>A
ENST00000683850.1:n.264G>A
ENST00000683919.1:c.341G>A	ENSP00000507617.1:p.Cys114Tyr
ENST00000683953.1:c.252G>A	ENSP00000508375.1:p.Leu84=
ENST00000684023.1:c.341G>A	ENSP00000507461.1:p.Cys114Tyr
ENST00000684064.1:c.32G>A	ENSP00000508192.1:p.Cys11Tyr
ENST00000684089.1:n.331G>A
ENST00000684149.1:c.341G>A	ENSP00000507943.1:p.Cys114Tyr
ENST00000684416.1:n.166G>A
ENST00000684540.1:c.341G>A	ENSP00000507987.1:p.Cys114Tyr
ENST00000684733.1:n.276G>A
ENST00000453321.8:c.341G>A MANE Select	ENSP00000389998.3:p.Cys114Tyr
ENST00000323130.7:c.311G>A	ENSP00000314488.3:p.Cys104Tyr
ENST00000409623.7:c.-37G>A	ENSP00000386966.3:n.-37G>A
ENST00000452276.5:c.32G>A	ENSP00000388671.1:p.Cys11Tyr
ENST00000453321.7:c.341G>A	ENSP00000389998.3:p.Cys114Tyr
ENST00000453906.5:c.341G>A	ENSP00000403035.1:p.Cys114Tyr
ENST00000455946.5:c.341G>A	ENSP00000416339.1:p.Cys114Tyr
ENST00000474944.5:n.361G>A
ENST00000475305.1:n.350G>A
ENST00000498673.5:c.-140G>A	ENSP00000430232.1:n.-140G>A
ENST00000518319.5:c.-179G>A	ENSP00000430289.1:n.-179G>A
ENST00000521065.1:c.247G>A
ENST00000521222.5:c.337G>A	ENSP00000429925.1:p.Ala113Thr
ENST00000521517.5:c.333G>A
NM_001142301.1:c.-37G>A , LRG_688t2:c.-37G>A	NP_001135773.1:n.-37G>A
NM_153704.5:c.341G>A , LRG_688t1:c.341G>A	NP_714915.3:p.Cys114Tyr
NR_024522.1:n.412G>A
XM_006716686.2:c.38G>A	XP_006716749.1:p.Cys13Tyr
XM_011517363.1:c.341G>A	XP_011515665.1:p.Cys114Tyr
XR_428387.1:n.399G>A
XR_928360.1:n.399G>A
XR_928361.1:n.399G>A
XR_928362.1:n.399G>A
XM_006716686.4:c.38G>A	XP_006716749.1:p.Cys13Tyr
XM_011517363.3:c.341G>A	XP_011515665.1:p.Cys114Tyr
XM_024447326.1:c.-69G>A	XP_024303094.1:n.-69G>A
XR_001745619.2:n.382G>A
XR_428387.2:n.382G>A
XR_928360.3:n.382G>A
XR_928362.3:n.382G>A
NM_153704.6:c.341G>A MANE Select	NP_714915.3:p.Cys114Tyr
NR_024522.2:n.362G>A