Canonical Allele Identifier: CA371689724

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798498G>A (hg19) ; chr8:g.93786270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786270G>A , CM000670.2:g.93786270G>A	GRCh38
NC_000008.10:g.94798498G>A , CM000670.1:g.94798498G>A	GRCh37
NC_000008.9:g.94867674G>A	NCBI36
NG_009190.1:g.36427G>A , LRG_688:g.36427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1336G>A	ENSP00000314488.4:p.Asp446Asn
ENST00000409623.8:c.1291G>A	ENSP00000386966.4:p.Asp431Asn
ENST00000452276.6:c.1336G>A	ENSP00000388671.2:p.Asp446Asn
ENST00000453906.6:c.454G>A	ENSP00000403035.2:p.Asp152Asn
ENST00000520680.2:c.1336G>A	ENSP00000428785.2:p.Asp446Asn
ENST00000521517.6:c.1336G>A	ENSP00000430740.2:p.Asp446Asn
ENST00000681998.1:c.1157G>A	ENSP00000506773.1:n.1157G>A
ENST00000682036.1:c.454G>A	ENSP00000508390.1:p.Asp152Asn
ENST00000682577.1:c.1109G>A	ENSP00000506963.1:n.1109G>A
ENST00000682624.1:c.*910G>A	ENSP00000508343.1:n.*910G>A
ENST00000682700.1:c.1336G>A	ENSP00000507627.1:p.Asp446Asn
ENST00000682744.1:n.874G>A
ENST00000682804.1:n.1159G>A
ENST00000682837.1:c.825G>A	ENSP00000507920.1:n.825G>A
ENST00000682935.1:n.3386G>A
ENST00000682984.1:c.997G>A	ENSP00000507209.1:p.Asp333Asn
ENST00000683078.1:c.1091G>A	ENSP00000506796.1:n.1091G>A
ENST00000683223.1:c.1068G>A	ENSP00000507685.1:n.1068G>A
ENST00000683238.1:n.2560G>A
ENST00000683249.1:n.2933G>A
ENST00000683336.1:c.1157G>A	ENSP00000507695.1:n.1157G>A
ENST00000683362.1:c.997G>A	ENSP00000506985.1:p.Asp333Asn
ENST00000683850.1:n.1259G>A
ENST00000683919.1:c.1266G>A	ENSP00000507617.1:n.1266G>A
ENST00000683953.1:c.1247G>A	ENSP00000508375.1:n.1247G>A
ENST00000684023.1:c.1313G>A	ENSP00000507461.1:n.1313G>A
ENST00000684064.1:c.1027G>A	ENSP00000508192.1:p.Asp343Asn
ENST00000684089.1:n.2886G>A
ENST00000684149.1:c.*515G>A	ENSP00000507943.1:n.*515G>A
ENST00000684416.1:n.1295G>A
ENST00000684540.1:c.1266G>A	ENSP00000507987.1:n.1266G>A
ENST00000453321.8:c.1336G>A MANE Select	ENSP00000389998.3:p.Asp446Asn
ENST00000323130.7:c.1306G>A	ENSP00000314488.3:p.Asp436Asn
ENST00000409623.7:c.1093G>A	ENSP00000386966.3:p.Asp365Asn
ENST00000452276.5:c.1027G>A	ENSP00000388671.1:p.Asp343Asn
ENST00000453321.7:c.1336G>A	ENSP00000389998.3:p.Asp446Asn
ENST00000453906.5:c.454G>A	ENSP00000403035.1:p.Asp152Asn
ENST00000474944.5:n.474G>A
ENST00000520680.1:c.158G>A
NM_001142301.1:c.1093G>A , LRG_688t2:c.1093G>A	NP_001135773.1:p.Asp365Asn
NM_153704.5:c.1336G>A , LRG_688t1:c.1336G>A	NP_714915.3:p.Asp446Asn
NR_024522.1:n.1407G>A
XM_006716686.2:c.1033G>A	XP_006716749.1:p.Asp345Asn
XM_006716687.2:c.736G>A	XP_006716750.1:p.Asp246Asn
XM_011517363.1:c.454G>A	XP_011515665.1:p.Asp152Asn
XR_428387.1:n.1394G>A
XR_928360.1:n.1394G>A
XR_928361.1:n.1394G>A
XR_928362.1:n.1394G>A
XM_006716686.4:c.1033G>A	XP_006716749.1:p.Asp345Asn
XM_011517363.3:c.454G>A	XP_011515665.1:p.Asp152Asn
XM_024447326.1:c.682G>A	XP_024303094.1:p.Asp228Asn
XR_001745619.2:n.1377G>A
XR_428387.2:n.1377G>A
XR_928360.3:n.1377G>A
XR_928362.3:n.1377G>A
NM_153704.6:c.1336G>A MANE Select	NP_714915.3:p.Asp446Asn
NR_024522.2:n.1357G>A