Canonical Allele Identifier: CA371688234

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780893-C-A
• MyVariant Identifiers: chr8:g.94793121C>A (hg19) ; chr8:g.93780893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780893C>A , CM000670.2:g.93780893C>A	GRCh38
NC_000008.10:g.94793121C>A , CM000670.1:g.94793121C>A	GRCh37
NC_000008.9:g.94862297C>A	NCBI36
NG_009190.1:g.31050C>A , LRG_688:g.31050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.889C>A	ENSP00000314488.4:p.Leu297Met
ENST00000409623.8:c.889C>A	ENSP00000386966.4:p.Leu297Met
ENST00000452276.6:c.889C>A	ENSP00000388671.2:p.Leu297Met
ENST00000453906.6:c.407-5330C>A	ENSP00000403035.2:n.407-5330C>A
ENST00000520680.2:c.889C>A	ENSP00000428785.2:p.Leu297Met
ENST00000521065.2:c.*606C>A	ENSP00000427947.2:n.*606C>A
ENST00000521517.6:c.889C>A	ENSP00000430740.2:p.Leu297Met
ENST00000681998.1:c.799+146C>A	ENSP00000506773.1:n.799+146C>A
ENST00000682036.1:c.407-5330C>A	ENSP00000508390.1:n.407-5330C>A
ENST00000682577.1:c.819C>A	ENSP00000506963.1:n.819C>A
ENST00000682624.1:c.*463C>A	ENSP00000508343.1:n.*463C>A
ENST00000682700.1:c.889C>A	ENSP00000507627.1:p.Leu297Met
ENST00000682744.1:n.427C>A
ENST00000682804.1:n.712C>A
ENST00000682837.1:c.624+146C>A	ENSP00000507920.1:n.624+146C>A
ENST00000682935.1:n.2449C>A
ENST00000682984.1:c.550C>A	ENSP00000507209.1:p.Leu184Met
ENST00000683078.1:c.644C>A	ENSP00000506796.1:n.644C>A
ENST00000683223.1:c.710+146C>A	ENSP00000507685.1:n.710+146C>A
ENST00000683238.1:n.2270C>A
ENST00000683249.1:n.2486C>A
ENST00000683336.1:c.799+146C>A	ENSP00000507695.1:n.799+146C>A
ENST00000683362.1:c.550C>A	ENSP00000506985.1:p.Leu184Met
ENST00000683850.1:n.812C>A
ENST00000683919.1:c.819C>A	ENSP00000507617.1:n.819C>A
ENST00000683953.1:c.800C>A	ENSP00000508375.1:n.800C>A
ENST00000684023.1:c.1023C>A	ENSP00000507461.1:n.1023C>A
ENST00000684064.1:c.580C>A	ENSP00000508192.1:p.Leu194Met
ENST00000684089.1:n.2439C>A
ENST00000684149.1:c.*225C>A	ENSP00000507943.1:n.*225C>A
ENST00000684416.1:n.848C>A
ENST00000684540.1:c.819C>A	ENSP00000507987.1:n.819C>A
ENST00000453321.8:c.889C>A MANE Select	ENSP00000389998.3:p.Leu297Met
ENST00000323130.7:c.859C>A	ENSP00000314488.3:p.Leu287Met
ENST00000409623.7:c.646C>A	ENSP00000386966.3:p.Leu216Met
ENST00000425545.2:n.336C>A
ENST00000452276.5:c.580C>A	ENSP00000388671.1:p.Leu194Met
ENST00000453321.7:c.889C>A	ENSP00000389998.3:p.Leu297Met
ENST00000453906.5:c.407-5330C>A	ENSP00000403035.1:n.407-5330C>A
ENST00000474944.5:n.427-5330C>A
ENST00000496213.5:n.354C>A
NM_001142301.1:c.646C>A , LRG_688t2:c.646C>A	NP_001135773.1:p.Leu216Met
NM_153704.5:c.889C>A , LRG_688t1:c.889C>A	NP_714915.3:p.Leu297Met
NR_024522.1:n.960C>A
XM_006716686.2:c.586C>A	XP_006716749.1:p.Leu196Met
XM_006716687.2:c.289C>A	XP_006716750.1:p.Leu97Met
XM_011517363.1:c.407-5330C>A	XP_011515665.1:n.407-5330C>A
XR_428387.1:n.947C>A
XR_928360.1:n.947C>A
XR_928361.1:n.947C>A
XR_928362.1:n.947C>A
XM_006716686.4:c.586C>A	XP_006716749.1:p.Leu196Met
XM_011517363.3:c.407-5330C>A	XP_011515665.1:n.407-5330C>A
XM_024447326.1:c.235C>A	XP_024303094.1:p.Leu79Met
XR_001745619.2:n.930C>A
XR_428387.2:n.930C>A
XR_928360.3:n.930C>A
XR_928362.3:n.930C>A
NM_153704.6:c.889C>A MANE Select	NP_714915.3:p.Leu297Met
NR_024522.2:n.910C>A