Canonical Allele Identifier: CA371689772

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798521T>G (hg19) ; chr8:g.93786293T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786293T>G , CM000670.2:g.93786293T>G	GRCh38
NC_000008.10:g.94798521T>G , CM000670.1:g.94798521T>G	GRCh37
NC_000008.9:g.94867697T>G	NCBI36
NG_009190.1:g.36450T>G , LRG_688:g.36450T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1359T>G	ENSP00000314488.4:p.Asn453Lys
ENST00000409623.8:c.1314T>G	ENSP00000386966.4:p.Asn438Lys
ENST00000452276.6:c.1359T>G	ENSP00000388671.2:p.Asn453Lys
ENST00000453906.6:c.477T>G	ENSP00000403035.2:p.Asn159Lys
ENST00000520680.2:c.1359T>G	ENSP00000428785.2:p.Asn453Lys
ENST00000521517.6:c.1359T>G	ENSP00000430740.2:p.Asn453Lys
ENST00000681998.1:c.1180T>G	ENSP00000506773.1:n.1180T>G
ENST00000682036.1:c.477T>G	ENSP00000508390.1:p.Asn159Lys
ENST00000682577.1:c.1132T>G	ENSP00000506963.1:n.1132T>G
ENST00000682624.1:c.*933T>G	ENSP00000508343.1:n.*933T>G
ENST00000682700.1:c.1359T>G	ENSP00000507627.1:p.Asn453Lys
ENST00000682744.1:n.897T>G
ENST00000682804.1:n.1182T>G
ENST00000682837.1:c.848T>G	ENSP00000507920.1:n.848T>G
ENST00000682935.1:n.3409T>G
ENST00000682984.1:c.1020T>G	ENSP00000507209.1:p.Asn340Lys
ENST00000683078.1:c.1114T>G	ENSP00000506796.1:n.1114T>G
ENST00000683223.1:c.1091T>G	ENSP00000507685.1:n.1091T>G
ENST00000683238.1:n.2583T>G
ENST00000683249.1:n.2956T>G
ENST00000683336.1:c.1180T>G	ENSP00000507695.1:n.1180T>G
ENST00000683362.1:c.1020T>G	ENSP00000506985.1:p.Asn340Lys
ENST00000683850.1:n.1282T>G
ENST00000683919.1:c.1289T>G	ENSP00000507617.1:n.1289T>G
ENST00000683953.1:c.1270T>G	ENSP00000508375.1:n.1270T>G
ENST00000684023.1:c.1336T>G	ENSP00000507461.1:n.1336T>G
ENST00000684064.1:c.1050T>G	ENSP00000508192.1:p.Asn350Lys
ENST00000684089.1:n.2909T>G
ENST00000684149.1:c.*538T>G	ENSP00000507943.1:n.*538T>G
ENST00000684416.1:n.1318T>G
ENST00000684540.1:c.1289T>G	ENSP00000507987.1:n.1289T>G
ENST00000453321.8:c.1359T>G MANE Select	ENSP00000389998.3:p.Asn453Lys
ENST00000323130.7:c.1329T>G	ENSP00000314488.3:p.Asn443Lys
ENST00000409623.7:c.1116T>G	ENSP00000386966.3:p.Asn372Lys
ENST00000452276.5:c.1050T>G	ENSP00000388671.1:p.Asn350Lys
ENST00000453321.7:c.1359T>G	ENSP00000389998.3:p.Asn453Lys
ENST00000453906.5:c.477T>G	ENSP00000403035.1:p.Asn159Lys
ENST00000474944.5:n.497T>G
ENST00000520680.1:c.181T>G
NM_001142301.1:c.1116T>G , LRG_688t2:c.1116T>G	NP_001135773.1:p.Asn372Lys
NM_153704.5:c.1359T>G , LRG_688t1:c.1359T>G	NP_714915.3:p.Asn453Lys
NR_024522.1:n.1430T>G
XM_006716686.2:c.1056T>G	XP_006716749.1:p.Asn352Lys
XM_006716687.2:c.759T>G	XP_006716750.1:p.Asn253Lys
XM_011517363.1:c.477T>G	XP_011515665.1:p.Asn159Lys
XR_428387.1:n.1417T>G
XR_928360.1:n.1417T>G
XR_928361.1:n.1417T>G
XR_928362.1:n.1417T>G
XM_006716686.4:c.1056T>G	XP_006716749.1:p.Asn352Lys
XM_011517363.3:c.477T>G	XP_011515665.1:p.Asn159Lys
XM_024447326.1:c.705T>G	XP_024303094.1:p.Asn235Lys
XR_001745619.2:n.1400T>G
XR_428387.2:n.1400T>G
XR_928360.3:n.1400T>G
XR_928362.3:n.1400T>G
NM_153704.6:c.1359T>G MANE Select	NP_714915.3:p.Asn453Lys
NR_024522.2:n.1380T>G