Canonical Allele Identifier: CA371689770

Gene: TMEM67

Linked Data

• dbSNP Id: rs1814095348
• gnomAD v3: 8-93786292-A-G
• gnomAD v4: 8-93786292-A-G
• MyVariant Identifiers: chr8:g.94798520A>G (hg19) ; chr8:g.93786292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786292A>G , CM000670.2:g.93786292A>G	GRCh38
NC_000008.10:g.94798520A>G , CM000670.1:g.94798520A>G	GRCh37
NC_000008.9:g.94867696A>G	NCBI36
NG_009190.1:g.36449A>G , LRG_688:g.36449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1358A>G	ENSP00000314488.4:p.Asn453Ser
ENST00000409623.8:c.1313A>G	ENSP00000386966.4:p.Asn438Ser
ENST00000452276.6:c.1358A>G	ENSP00000388671.2:p.Asn453Ser
ENST00000453906.6:c.476A>G	ENSP00000403035.2:p.Asn159Ser
ENST00000520680.2:c.1358A>G	ENSP00000428785.2:p.Asn453Ser
ENST00000521517.6:c.1358A>G	ENSP00000430740.2:p.Asn453Ser
ENST00000681998.1:c.1179A>G	ENSP00000506773.1:n.1179A>G
ENST00000682036.1:c.476A>G	ENSP00000508390.1:p.Asn159Ser
ENST00000682577.1:c.1131A>G	ENSP00000506963.1:n.1131A>G
ENST00000682624.1:c.*932A>G	ENSP00000508343.1:n.*932A>G
ENST00000682700.1:c.1358A>G	ENSP00000507627.1:p.Asn453Ser
ENST00000682744.1:n.896A>G
ENST00000682804.1:n.1181A>G
ENST00000682837.1:c.847A>G	ENSP00000507920.1:n.847A>G
ENST00000682935.1:n.3408A>G
ENST00000682984.1:c.1019A>G	ENSP00000507209.1:p.Asn340Ser
ENST00000683078.1:c.1113A>G	ENSP00000506796.1:n.1113A>G
ENST00000683223.1:c.1090A>G	ENSP00000507685.1:n.1090A>G
ENST00000683238.1:n.2582A>G
ENST00000683249.1:n.2955A>G
ENST00000683336.1:c.1179A>G	ENSP00000507695.1:n.1179A>G
ENST00000683362.1:c.1019A>G	ENSP00000506985.1:p.Asn340Ser
ENST00000683850.1:n.1281A>G
ENST00000683919.1:c.1288A>G	ENSP00000507617.1:n.1288A>G
ENST00000683953.1:c.1269A>G	ENSP00000508375.1:n.1269A>G
ENST00000684023.1:c.1335A>G	ENSP00000507461.1:n.1335A>G
ENST00000684064.1:c.1049A>G	ENSP00000508192.1:p.Asn350Ser
ENST00000684089.1:n.2908A>G
ENST00000684149.1:c.*537A>G	ENSP00000507943.1:n.*537A>G
ENST00000684416.1:n.1317A>G
ENST00000684540.1:c.1288A>G	ENSP00000507987.1:n.1288A>G
ENST00000453321.8:c.1358A>G MANE Select	ENSP00000389998.3:p.Asn453Ser
ENST00000323130.7:c.1328A>G	ENSP00000314488.3:p.Asn443Ser
ENST00000409623.7:c.1115A>G	ENSP00000386966.3:p.Asn372Ser
ENST00000452276.5:c.1049A>G	ENSP00000388671.1:p.Asn350Ser
ENST00000453321.7:c.1358A>G	ENSP00000389998.3:p.Asn453Ser
ENST00000453906.5:c.476A>G	ENSP00000403035.1:p.Asn159Ser
ENST00000474944.5:n.496A>G
ENST00000520680.1:c.180A>G
NM_001142301.1:c.1115A>G , LRG_688t2:c.1115A>G	NP_001135773.1:p.Asn372Ser
NM_153704.5:c.1358A>G , LRG_688t1:c.1358A>G	NP_714915.3:p.Asn453Ser
NR_024522.1:n.1429A>G
XM_006716686.2:c.1055A>G	XP_006716749.1:p.Asn352Ser
XM_006716687.2:c.758A>G	XP_006716750.1:p.Asn253Ser
XM_011517363.1:c.476A>G	XP_011515665.1:p.Asn159Ser
XR_428387.1:n.1416A>G
XR_928360.1:n.1416A>G
XR_928361.1:n.1416A>G
XR_928362.1:n.1416A>G
XM_006716686.4:c.1055A>G	XP_006716749.1:p.Asn352Ser
XM_011517363.3:c.476A>G	XP_011515665.1:p.Asn159Ser
XM_024447326.1:c.704A>G	XP_024303094.1:p.Asn235Ser
XR_001745619.2:n.1399A>G
XR_428387.2:n.1399A>G
XR_928360.3:n.1399A>G
XR_928362.3:n.1399A>G
NM_153704.6:c.1358A>G MANE Select	NP_714915.3:p.Asn453Ser
NR_024522.2:n.1379A>G