Canonical Allele Identifier: CA371689780

Gene: TMEM67

Linked Data

• dbSNP Id: rs1362471102
• gnomAD v2: 8-94798524-C-G
• gnomAD v4: 8-93786296-C-G
• MyVariant Identifiers: chr8:g.94798524C>G (hg19) ; chr8:g.93786296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786296C>G , CM000670.2:g.93786296C>G	GRCh38
NC_000008.10:g.94798524C>G , CM000670.1:g.94798524C>G	GRCh37
NC_000008.9:g.94867700C>G	NCBI36
NG_009190.1:g.36453C>G , LRG_688:g.36453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1362C>G	ENSP00000314488.4:p.Asp454Glu
ENST00000409623.8:c.1317C>G	ENSP00000386966.4:p.Asp439Glu
ENST00000452276.6:c.1362C>G	ENSP00000388671.2:p.Asp454Glu
ENST00000453906.6:c.480C>G	ENSP00000403035.2:p.Asp160Glu
ENST00000520680.2:c.1362C>G	ENSP00000428785.2:p.Asp454Glu
ENST00000521517.6:c.1362C>G	ENSP00000430740.2:p.Asp454Glu
ENST00000681998.1:c.1183C>G	ENSP00000506773.1:n.1183C>G
ENST00000682036.1:c.480C>G	ENSP00000508390.1:p.Asp160Glu
ENST00000682577.1:c.1135C>G	ENSP00000506963.1:n.1135C>G
ENST00000682624.1:c.*936C>G	ENSP00000508343.1:n.*936C>G
ENST00000682700.1:c.1362C>G	ENSP00000507627.1:p.Asp454Glu
ENST00000682744.1:n.900C>G
ENST00000682804.1:n.1185C>G
ENST00000682837.1:c.851C>G	ENSP00000507920.1:n.851C>G
ENST00000682935.1:n.3412C>G
ENST00000682984.1:c.1023C>G	ENSP00000507209.1:p.Asp341Glu
ENST00000683078.1:c.1117C>G	ENSP00000506796.1:n.1117C>G
ENST00000683223.1:c.1094C>G	ENSP00000507685.1:n.1094C>G
ENST00000683238.1:n.2586C>G
ENST00000683249.1:n.2959C>G
ENST00000683336.1:c.1183C>G	ENSP00000507695.1:n.1183C>G
ENST00000683362.1:c.1023C>G	ENSP00000506985.1:p.Asp341Glu
ENST00000683850.1:n.1285C>G
ENST00000683919.1:c.1292C>G	ENSP00000507617.1:n.1292C>G
ENST00000683953.1:c.1273C>G	ENSP00000508375.1:n.1273C>G
ENST00000684023.1:c.1339C>G	ENSP00000507461.1:n.1339C>G
ENST00000684064.1:c.1053C>G	ENSP00000508192.1:p.Asp351Glu
ENST00000684089.1:n.2912C>G
ENST00000684149.1:c.*541C>G	ENSP00000507943.1:n.*541C>G
ENST00000684416.1:n.1321C>G
ENST00000684540.1:c.1292C>G	ENSP00000507987.1:n.1292C>G
ENST00000453321.8:c.1362C>G MANE Select	ENSP00000389998.3:p.Asp454Glu
ENST00000323130.7:c.1332C>G	ENSP00000314488.3:p.Asp444Glu
ENST00000409623.7:c.1119C>G	ENSP00000386966.3:p.Asp373Glu
ENST00000452276.5:c.1053C>G	ENSP00000388671.1:p.Asp351Glu
ENST00000453321.7:c.1362C>G	ENSP00000389998.3:p.Asp454Glu
ENST00000453906.5:c.480C>G	ENSP00000403035.1:p.Asp160Glu
ENST00000474944.5:n.500C>G
ENST00000520680.1:c.184C>G
NM_001142301.1:c.1119C>G , LRG_688t2:c.1119C>G	NP_001135773.1:p.Asp373Glu
NM_153704.5:c.1362C>G , LRG_688t1:c.1362C>G	NP_714915.3:p.Asp454Glu
NR_024522.1:n.1433C>G
XM_006716686.2:c.1059C>G	XP_006716749.1:p.Asp353Glu
XM_006716687.2:c.762C>G	XP_006716750.1:p.Asp254Glu
XM_011517363.1:c.480C>G	XP_011515665.1:p.Asp160Glu
XR_428387.1:n.1420C>G
XR_928360.1:n.1420C>G
XR_928361.1:n.1420C>G
XR_928362.1:n.1420C>G
XM_006716686.4:c.1059C>G	XP_006716749.1:p.Asp353Glu
XM_011517363.3:c.480C>G	XP_011515665.1:p.Asp160Glu
XM_024447326.1:c.708C>G	XP_024303094.1:p.Asp236Glu
XR_001745619.2:n.1403C>G
XR_428387.2:n.1403C>G
XR_928360.3:n.1403C>G
XR_928362.3:n.1403C>G
NM_153704.6:c.1362C>G MANE Select	NP_714915.3:p.Asp454Glu
NR_024522.2:n.1383C>G