Canonical Allele Identifier: CA371689745

Gene: TMEM67

Linked Data

• dbSNP Id: rs1814093810
• gnomAD v4: 8-93786280-G-A
• MyVariant Identifiers: chr8:g.94798508G>A (hg19) ; chr8:g.93786280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786280G>A , CM000670.2:g.93786280G>A	GRCh38
NC_000008.10:g.94798508G>A , CM000670.1:g.94798508G>A	GRCh37
NC_000008.9:g.94867684G>A	NCBI36
NG_009190.1:g.36437G>A , LRG_688:g.36437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1346G>A	ENSP00000314488.4:p.Ser449Asn
ENST00000409623.8:c.1301G>A	ENSP00000386966.4:p.Ser434Asn
ENST00000452276.6:c.1346G>A	ENSP00000388671.2:p.Ser449Asn
ENST00000453906.6:c.464G>A	ENSP00000403035.2:p.Ser155Asn
ENST00000520680.2:c.1346G>A	ENSP00000428785.2:p.Ser449Asn
ENST00000521517.6:c.1346G>A	ENSP00000430740.2:p.Ser449Asn
ENST00000681998.1:c.1167G>A	ENSP00000506773.1:n.1167G>A
ENST00000682036.1:c.464G>A	ENSP00000508390.1:p.Ser155Asn
ENST00000682577.1:c.1119G>A	ENSP00000506963.1:n.1119G>A
ENST00000682624.1:c.*920G>A	ENSP00000508343.1:n.*920G>A
ENST00000682700.1:c.1346G>A	ENSP00000507627.1:p.Ser449Asn
ENST00000682744.1:n.884G>A
ENST00000682804.1:n.1169G>A
ENST00000682837.1:c.835G>A	ENSP00000507920.1:n.835G>A
ENST00000682935.1:n.3396G>A
ENST00000682984.1:c.1007G>A	ENSP00000507209.1:p.Ser336Asn
ENST00000683078.1:c.1101G>A	ENSP00000506796.1:n.1101G>A
ENST00000683223.1:c.1078G>A	ENSP00000507685.1:n.1078G>A
ENST00000683238.1:n.2570G>A
ENST00000683249.1:n.2943G>A
ENST00000683336.1:c.1167G>A	ENSP00000507695.1:n.1167G>A
ENST00000683362.1:c.1007G>A	ENSP00000506985.1:p.Ser336Asn
ENST00000683850.1:n.1269G>A
ENST00000683919.1:c.1276G>A	ENSP00000507617.1:n.1276G>A
ENST00000683953.1:c.1257G>A	ENSP00000508375.1:n.1257G>A
ENST00000684023.1:c.1323G>A	ENSP00000507461.1:n.1323G>A
ENST00000684064.1:c.1037G>A	ENSP00000508192.1:p.Ser346Asn
ENST00000684089.1:n.2896G>A
ENST00000684149.1:c.*525G>A	ENSP00000507943.1:n.*525G>A
ENST00000684416.1:n.1305G>A
ENST00000684540.1:c.1276G>A	ENSP00000507987.1:n.1276G>A
ENST00000453321.8:c.1346G>A MANE Select	ENSP00000389998.3:p.Ser449Asn
ENST00000323130.7:c.1316G>A	ENSP00000314488.3:p.Ser439Asn
ENST00000409623.7:c.1103G>A	ENSP00000386966.3:p.Ser368Asn
ENST00000452276.5:c.1037G>A	ENSP00000388671.1:p.Ser346Asn
ENST00000453321.7:c.1346G>A	ENSP00000389998.3:p.Ser449Asn
ENST00000453906.5:c.464G>A	ENSP00000403035.1:p.Ser155Asn
ENST00000474944.5:n.484G>A
ENST00000520680.1:c.168G>A
NM_001142301.1:c.1103G>A , LRG_688t2:c.1103G>A	NP_001135773.1:p.Ser368Asn
NM_153704.5:c.1346G>A , LRG_688t1:c.1346G>A	NP_714915.3:p.Ser449Asn
NR_024522.1:n.1417G>A
XM_006716686.2:c.1043G>A	XP_006716749.1:p.Ser348Asn
XM_006716687.2:c.746G>A	XP_006716750.1:p.Ser249Asn
XM_011517363.1:c.464G>A	XP_011515665.1:p.Ser155Asn
XR_428387.1:n.1404G>A
XR_928360.1:n.1404G>A
XR_928361.1:n.1404G>A
XR_928362.1:n.1404G>A
XM_006716686.4:c.1043G>A	XP_006716749.1:p.Ser348Asn
XM_011517363.3:c.464G>A	XP_011515665.1:p.Ser155Asn
XM_024447326.1:c.692G>A	XP_024303094.1:p.Ser231Asn
XR_001745619.2:n.1387G>A
XR_428387.2:n.1387G>A
XR_928360.3:n.1387G>A
XR_928362.3:n.1387G>A
NM_153704.6:c.1346G>A MANE Select	NP_714915.3:p.Ser449Asn
NR_024522.2:n.1367G>A