Canonical Allele Identifier: CA371689840

Gene: TMEM67

Linked Data

• dbSNP Id: rs1424836427
• gnomAD v2: 8-94798556-C-G
• gnomAD v4: 8-93786328-C-G
• MyVariant Identifiers: chr8:g.94798556C>G (hg19) ; chr8:g.93786328C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786328C>G , CM000670.2:g.93786328C>G	GRCh38
NC_000008.10:g.94798556C>G , CM000670.1:g.94798556C>G	GRCh37
NC_000008.9:g.94867732C>G	NCBI36
NG_009190.1:g.36485C>G , LRG_688:g.36485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1394C>G	ENSP00000314488.4:p.Ala465Gly
ENST00000409623.8:c.1349C>G	ENSP00000386966.4:p.Ala450Gly
ENST00000452276.6:c.1394C>G	ENSP00000388671.2:p.Ala465Gly
ENST00000453906.6:c.512C>G	ENSP00000403035.2:p.Ala171Gly
ENST00000520680.2:c.1394C>G	ENSP00000428785.2:p.Ala465Gly
ENST00000521517.6:c.1394C>G	ENSP00000430740.2:p.Ala465Gly
ENST00000681998.1:c.1215C>G	ENSP00000506773.1:n.1215C>G
ENST00000682036.1:c.512C>G	ENSP00000508390.1:p.Ala171Gly
ENST00000682577.1:c.1167C>G	ENSP00000506963.1:n.1167C>G
ENST00000682624.1:c.*968C>G	ENSP00000508343.1:n.*968C>G
ENST00000682700.1:c.1394C>G	ENSP00000507627.1:p.Ala465Gly
ENST00000682744.1:n.932C>G
ENST00000682804.1:n.1217C>G
ENST00000682837.1:c.883C>G	ENSP00000507920.1:n.883C>G
ENST00000682935.1:n.3444C>G
ENST00000682984.1:c.1055C>G	ENSP00000507209.1:p.Ala352Gly
ENST00000683078.1:c.1149C>G	ENSP00000506796.1:n.1149C>G
ENST00000683223.1:c.1126C>G	ENSP00000507685.1:n.1126C>G
ENST00000683238.1:n.2618C>G
ENST00000683249.1:n.2991C>G
ENST00000683336.1:c.1215C>G	ENSP00000507695.1:n.1215C>G
ENST00000683362.1:c.1055C>G	ENSP00000506985.1:p.Ala352Gly
ENST00000683850.1:n.1317C>G
ENST00000683919.1:c.1324C>G	ENSP00000507617.1:n.1324C>G
ENST00000683953.1:c.1305C>G	ENSP00000508375.1:n.1305C>G
ENST00000684023.1:c.1371C>G	ENSP00000507461.1:n.1371C>G
ENST00000684064.1:c.1085C>G	ENSP00000508192.1:p.Ala362Gly
ENST00000684089.1:n.2944C>G
ENST00000684149.1:c.*573C>G	ENSP00000507943.1:n.*573C>G
ENST00000684416.1:n.1353C>G
ENST00000684540.1:c.1324C>G	ENSP00000507987.1:n.1324C>G
ENST00000453321.8:c.1394C>G MANE Select	ENSP00000389998.3:p.Ala465Gly
ENST00000323130.7:c.1364C>G	ENSP00000314488.3:p.Ala455Gly
ENST00000409623.7:c.1151C>G	ENSP00000386966.3:p.Ala384Gly
ENST00000452276.5:c.1085C>G	ENSP00000388671.1:p.Ala362Gly
ENST00000453321.7:c.1394C>G	ENSP00000389998.3:p.Ala465Gly
ENST00000453906.5:c.512C>G	ENSP00000403035.1:p.Ala171Gly
ENST00000474944.5:n.532C>G
ENST00000520680.1:c.216C>G
NM_001142301.1:c.1151C>G , LRG_688t2:c.1151C>G	NP_001135773.1:p.Ala384Gly
NM_153704.5:c.1394C>G , LRG_688t1:c.1394C>G	NP_714915.3:p.Ala465Gly
NR_024522.1:n.1465C>G
XM_006716686.2:c.1091C>G	XP_006716749.1:p.Ala364Gly
XM_006716687.2:c.794C>G	XP_006716750.1:p.Ala265Gly
XM_011517363.1:c.512C>G	XP_011515665.1:p.Ala171Gly
XR_428387.1:n.1452C>G
XR_928360.1:n.1452C>G
XR_928361.1:n.1452C>G
XR_928362.1:n.1452C>G
XM_006716686.4:c.1091C>G	XP_006716749.1:p.Ala364Gly
XM_011517363.3:c.512C>G	XP_011515665.1:p.Ala171Gly
XM_024447326.1:c.740C>G	XP_024303094.1:p.Ala247Gly
XR_001745619.2:n.1435C>G
XR_428387.2:n.1435C>G
XR_928360.3:n.1435C>G
XR_928362.3:n.1435C>G
NM_153704.6:c.1394C>G MANE Select	NP_714915.3:p.Ala465Gly
NR_024522.2:n.1415C>G