Canonical Allele Identifier: CA371698866

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808847-T-A
• MyVariant Identifiers: chr8:g.94821075T>A (hg19) ; chr8:g.93808847T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808847T>A , CM000670.2:g.93808847T>A	GRCh38
NC_000008.10:g.94821075T>A , CM000670.1:g.94821075T>A	GRCh37
NC_000008.9:g.94890251T>A	NCBI36
NG_009190.1:g.59004T>A , LRG_688:g.59004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2447T>A	ENSP00000314488.4:p.Leu816Ter
ENST00000409623.8:c.2402T>A	ENSP00000386966.4:p.Leu801Ter
ENST00000452276.6:c.2330T>A	ENSP00000388671.2:p.Leu777Ter
ENST00000453906.6:c.1565T>A	ENSP00000403035.2:p.Leu522Ter
ENST00000518896.2:c.738T>A	ENSP00000507992.1:n.738T>A
ENST00000520680.2:c.2570T>A	ENSP00000428785.2:p.Leu857Ter
ENST00000521517.6:c.2348T>A	ENSP00000430740.2:p.Leu783Ter
ENST00000681998.1:c.2268T>A	ENSP00000506773.1:n.2268T>A
ENST00000682036.1:c.1688T>A	ENSP00000508390.1:p.Leu563Ter
ENST00000682577.1:c.2220T>A	ENSP00000506963.1:n.2220T>A
ENST00000682624.1:c.*2021T>A	ENSP00000508343.1:n.*2021T>A
ENST00000682700.1:c.2447T>A	ENSP00000507627.1:p.Leu816Ter
ENST00000682744.1:n.1985T>A
ENST00000682804.1:n.2270T>A
ENST00000682837.1:c.1936T>A	ENSP00000507920.1:n.1936T>A
ENST00000682935.1:n.4497T>A
ENST00000682984.1:c.2108T>A	ENSP00000507209.1:p.Leu703Ter
ENST00000683078.1:c.2202T>A	ENSP00000506796.1:n.2202T>A
ENST00000683223.1:c.2179T>A	ENSP00000507685.1:n.2179T>A
ENST00000683238.1:n.3671T>A
ENST00000683249.1:n.4044T>A
ENST00000683336.1:c.2268T>A	ENSP00000507695.1:n.2268T>A
ENST00000683362.1:c.2108T>A	ENSP00000506985.1:p.Leu703Ter
ENST00000683850.1:n.2370T>A
ENST00000683919.1:c.2377T>A	ENSP00000507617.1:n.2377T>A
ENST00000683953.1:c.2358T>A	ENSP00000508375.1:n.2358T>A
ENST00000684023.1:c.2424T>A	ENSP00000507461.1:n.2424T>A
ENST00000684064.1:c.2138T>A	ENSP00000508192.1:p.Leu713Ter
ENST00000684089.1:n.3997T>A
ENST00000684149.1:c.*1626T>A	ENSP00000507943.1:n.*1626T>A
ENST00000684343.1:c.644T>A	ENSP00000507591.1:p.Leu215Ter
ENST00000684416.1:n.2406T>A
ENST00000684540.1:c.2377T>A	ENSP00000507987.1:n.2377T>A
ENST00000453321.8:c.2447T>A MANE Select	ENSP00000389998.3:p.Leu816Ter
ENST00000323130.7:c.2417T>A	ENSP00000314488.3:p.Leu806Ter
ENST00000409623.7:c.2204T>A	ENSP00000386966.3:p.Leu735Ter
ENST00000453321.7:c.2447T>A	ENSP00000389998.3:p.Leu816Ter
ENST00000474944.5:n.1585T>A
ENST00000519845.5:n.1179T>A
NM_001142301.1:c.2204T>A , LRG_688t2:c.2204T>A	NP_001135773.1:p.Leu735Ter
NM_153704.5:c.2447T>A , LRG_688t1:c.2447T>A	NP_714915.3:p.Leu816Ter
NR_024522.1:n.2518T>A
XM_006716686.2:c.2144T>A	XP_006716749.1:p.Leu715Ter
XM_006716687.2:c.1847T>A	XP_006716750.1:p.Leu616Ter
XM_011517363.1:c.1565T>A	XP_011515665.1:p.Leu522Ter
XR_428387.1:n.2505T>A
XR_928360.1:n.2505T>A
XR_928361.1:n.2505T>A
XR_928362.1:n.2505T>A
XM_006716686.4:c.2144T>A	XP_006716749.1:p.Leu715Ter
XM_011517363.3:c.1565T>A	XP_011515665.1:p.Leu522Ter
XM_024447326.1:c.1793T>A	XP_024303094.1:p.Leu598Ter
XR_001745619.2:n.2488T>A
XR_428387.2:n.2488T>A
XR_928360.3:n.2488T>A
XR_928362.3:n.2488T>A
NM_153704.6:c.2447T>A MANE Select	NP_714915.3:p.Leu816Ter
NR_024522.2:n.2468T>A