Canonical Allele Identifier: CA461855819

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780949-T-C
• MyVariant Identifiers: chr8:g.94793177T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780949T>C , CM000670.2:g.93780949T>C	GRCh38
NC_000008.10:g.94793177T>C , CM000670.1:g.94793177T>C	GRCh37
NC_000008.9:g.94862353T>C	NCBI36
NG_009190.1:g.31106T>C , LRG_688:g.31106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.945T>C	ENSP00000314488.4:p.Leu315=
ENST00000409623.8:c.945T>C	ENSP00000386966.4:p.Leu315=
ENST00000452276.6:c.945T>C	ENSP00000388671.2:p.Leu315=
ENST00000453906.6:c.407-5274T>C	ENSP00000403035.2:n.407-5274T>C
ENST00000520680.2:c.945T>C	ENSP00000428785.2:p.Leu315=
ENST00000521065.2:c.*662T>C	ENSP00000427947.2:n.*662T>C
ENST00000521517.6:c.945T>C	ENSP00000430740.2:p.Leu315=
ENST00000681998.1:c.799+202T>C	ENSP00000506773.1:n.799+202T>C
ENST00000682036.1:c.407-5274T>C	ENSP00000508390.1:n.407-5274T>C
ENST00000682577.1:c.875T>C	ENSP00000506963.1:n.875T>C
ENST00000682624.1:c.*519T>C	ENSP00000508343.1:n.*519T>C
ENST00000682700.1:c.945T>C	ENSP00000507627.1:p.Leu315=
ENST00000682744.1:n.483T>C
ENST00000682804.1:n.768T>C
ENST00000682837.1:c.624+202T>C	ENSP00000507920.1:n.624+202T>C
ENST00000682935.1:n.2505T>C
ENST00000682984.1:c.606T>C	ENSP00000507209.1:p.Leu202=
ENST00000683078.1:c.700T>C	ENSP00000506796.1:n.700T>C
ENST00000683223.1:c.710+202T>C	ENSP00000507685.1:n.710+202T>C
ENST00000683238.1:n.2326T>C
ENST00000683249.1:n.2542T>C
ENST00000683336.1:c.799+202T>C	ENSP00000507695.1:n.799+202T>C
ENST00000683362.1:c.606T>C	ENSP00000506985.1:p.Leu202=
ENST00000683850.1:n.868T>C
ENST00000683919.1:c.875T>C	ENSP00000507617.1:n.875T>C
ENST00000683953.1:c.856T>C	ENSP00000508375.1:n.856T>C
ENST00000684023.1:c.1079T>C	ENSP00000507461.1:n.1079T>C
ENST00000684064.1:c.636T>C	ENSP00000508192.1:p.Leu212=
ENST00000684089.1:n.2495T>C
ENST00000684149.1:c.*281T>C	ENSP00000507943.1:n.*281T>C
ENST00000684416.1:n.904T>C
ENST00000684540.1:c.875T>C	ENSP00000507987.1:n.875T>C
ENST00000453321.8:c.945T>C MANE Select	ENSP00000389998.3:p.Leu315=
ENST00000323130.7:c.915T>C	ENSP00000314488.3:p.Leu305=
ENST00000409623.7:c.702T>C	ENSP00000386966.3:p.Leu234=
ENST00000425545.2:n.392T>C
ENST00000452276.5:c.636T>C	ENSP00000388671.1:p.Leu212=
ENST00000453321.7:c.945T>C	ENSP00000389998.3:p.Leu315=
ENST00000453906.5:c.407-5274T>C	ENSP00000403035.1:n.407-5274T>C
ENST00000474944.5:n.427-5274T>C
ENST00000496213.5:n.410T>C
NM_001142301.1:c.702T>C , LRG_688t2:c.702T>C	NP_001135773.1:p.Leu234=
NM_153704.5:c.945T>C , LRG_688t1:c.945T>C	NP_714915.3:p.Leu315=
NR_024522.1:n.1016T>C
XM_006716686.2:c.642T>C	XP_006716749.1:p.Leu214=
XM_006716687.2:c.345T>C	XP_006716750.1:p.Leu115=
XM_011517363.1:c.407-5274T>C	XP_011515665.1:n.407-5274T>C
XR_428387.1:n.1003T>C
XR_928360.1:n.1003T>C
XR_928361.1:n.1003T>C
XR_928362.1:n.1003T>C
XM_006716686.4:c.642T>C	XP_006716749.1:p.Leu214=
XM_011517363.3:c.407-5274T>C	XP_011515665.1:n.407-5274T>C
XM_024447326.1:c.291T>C	XP_024303094.1:p.Leu97=
XR_001745619.2:n.986T>C
XR_428387.2:n.986T>C
XR_928360.3:n.986T>C
XR_928362.3:n.986T>C
NM_153704.6:c.945T>C MANE Select	NP_714915.3:p.Leu315=
NR_024522.2:n.966T>C