Canonical Allele Identifier: CA371685889

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93758552-C-T
• MyVariant Identifiers: chr8:g.94770780C>T (hg19) ; chr8:g.93758552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758552C>T , CM000670.2:g.93758552C>T	GRCh38
NC_000008.10:g.94770780C>T , CM000670.1:g.94770780C>T	GRCh37
NC_000008.9:g.94839956C>T	NCBI36
NG_009190.1:g.8709C>T , LRG_688:g.8709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.382C>T	ENSP00000314488.4:p.His128Tyr
ENST00000409623.8:c.382C>T	ENSP00000386966.4:p.His128Tyr
ENST00000452276.6:c.382C>T	ENSP00000388671.2:p.His128Tyr
ENST00000453906.6:c.382C>T	ENSP00000403035.2:p.His128Tyr
ENST00000520680.2:c.382C>T	ENSP00000428785.2:p.His128Tyr
ENST00000521065.2:c.382C>T	ENSP00000427947.2:p.His128Tyr
ENST00000521517.6:c.382C>T	ENSP00000430740.2:p.His128Tyr
ENST00000681998.1:c.382C>T	ENSP00000506773.1:p.His128Tyr
ENST00000682036.1:c.382C>T	ENSP00000508390.1:p.His128Tyr
ENST00000682577.1:c.382C>T	ENSP00000506963.1:p.His128Tyr
ENST00000682624.1:c.*26C>T	ENSP00000508343.1:n.*26C>T
ENST00000682700.1:c.382C>T	ENSP00000507627.1:p.His128Tyr
ENST00000682804.1:n.275C>T
ENST00000682837.1:c.382C>T	ENSP00000507920.1:p.His128Tyr
ENST00000682935.1:n.382C>T
ENST00000682984.1:c.312+2686C>T	ENSP00000507209.1:n.312+2686C>T
ENST00000683078.1:c.382C>T	ENSP00000506796.1:p.His128Tyr
ENST00000683223.1:c.293C>T	ENSP00000507685.1:n.293C>T
ENST00000683238.1:n.203C>T
ENST00000683249.1:n.403C>T
ENST00000683336.1:c.382C>T	ENSP00000507695.1:p.His128Tyr
ENST00000683362.1:c.312+2686C>T	ENSP00000506985.1:n.312+2686C>T
ENST00000683850.1:n.305C>T
ENST00000683919.1:c.382C>T	ENSP00000507617.1:p.His128Tyr
ENST00000683953.1:c.293C>T	ENSP00000508375.1:n.293C>T
ENST00000684023.1:c.382C>T	ENSP00000507461.1:p.His128Tyr
ENST00000684064.1:c.73C>T	ENSP00000508192.1:p.His25Tyr
ENST00000684089.1:n.372C>T
ENST00000684149.1:c.382C>T	ENSP00000507943.1:p.His128Tyr
ENST00000684416.1:n.207C>T
ENST00000684540.1:c.382C>T	ENSP00000507987.1:p.His128Tyr
ENST00000684733.1:n.317C>T
ENST00000453321.8:c.382C>T MANE Select	ENSP00000389998.3:p.His128Tyr
ENST00000323130.7:c.352C>T	ENSP00000314488.3:p.His118Tyr
ENST00000409623.7:c.5C>T	ENSP00000386966.3:p.Ser2Leu
ENST00000452276.5:c.73C>T	ENSP00000388671.1:p.His25Tyr
ENST00000453321.7:c.382C>T	ENSP00000389998.3:p.His128Tyr
ENST00000453906.5:c.382C>T	ENSP00000403035.1:p.His128Tyr
ENST00000455946.5:c.382C>T	ENSP00000416339.1:p.His128Tyr
ENST00000474944.5:n.402C>T
ENST00000475305.1:n.391C>T
ENST00000498673.5:c.-99C>T	ENSP00000430232.1:n.-99C>T
ENST00000518319.5:c.-138C>T	ENSP00000430289.1:n.-138C>T
ENST00000521065.1:c.288C>T
ENST00000521222.5:c.*18C>T	ENSP00000429925.1:n.*18C>T
ENST00000521517.5:c.374C>T
NM_001142301.1:c.5C>T , LRG_688t2:c.5C>T	NP_001135773.1:p.Ser2Leu
NM_153704.5:c.382C>T , LRG_688t1:c.382C>T	NP_714915.3:p.His128Tyr
NR_024522.1:n.453C>T
XM_006716686.2:c.79C>T	XP_006716749.1:p.His27Tyr
XM_011517363.1:c.382C>T	XP_011515665.1:p.His128Tyr
XR_428387.1:n.440C>T
XR_928360.1:n.440C>T
XR_928361.1:n.440C>T
XR_928362.1:n.440C>T
XM_006716686.4:c.79C>T	XP_006716749.1:p.His27Tyr
XM_011517363.3:c.382C>T	XP_011515665.1:p.His128Tyr
XM_024447326.1:c.-28C>T	XP_024303094.1:n.-28C>T
XR_001745619.2:n.423C>T
XR_428387.2:n.423C>T
XR_928360.3:n.423C>T
XR_928362.3:n.423C>T
NM_153704.6:c.382C>T MANE Select	NP_714915.3:p.His128Tyr
NR_024522.2:n.403C>T