Canonical Allele Identifier: CA371687770

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792859T>A (hg19) ; chr8:g.93780631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780631T>A , CM000670.2:g.93780631T>A	GRCh38
NC_000008.10:g.94792859T>A , CM000670.1:g.94792859T>A	GRCh37
NC_000008.9:g.94862035T>A	NCBI36
NG_009190.1:g.30788T>A , LRG_688:g.30788T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.753T>A	ENSP00000314488.4:p.Asn251Lys
ENST00000409623.8:c.753T>A	ENSP00000386966.4:p.Asn251Lys
ENST00000452276.6:c.753T>A	ENSP00000388671.2:p.Asn251Lys
ENST00000453906.6:c.407-5592T>A	ENSP00000403035.2:n.407-5592T>A
ENST00000520680.2:c.753T>A	ENSP00000428785.2:p.Asn251Lys
ENST00000521065.2:c.*470T>A	ENSP00000427947.2:n.*470T>A
ENST00000521517.6:c.753T>A	ENSP00000430740.2:p.Asn251Lys
ENST00000681998.1:c.683T>A	ENSP00000506773.1:n.683T>A
ENST00000682036.1:c.407-5592T>A	ENSP00000508390.1:n.407-5592T>A
ENST00000682577.1:c.683T>A	ENSP00000506963.1:n.683T>A
ENST00000682624.1:c.*327T>A	ENSP00000508343.1:n.*327T>A
ENST00000682700.1:c.753T>A	ENSP00000507627.1:p.Asn251Lys
ENST00000682744.1:n.291T>A
ENST00000682804.1:n.576T>A
ENST00000682837.1:c.508T>A	ENSP00000507920.1:p.Tyr170Asn
ENST00000682935.1:n.2313T>A
ENST00000682984.1:c.414T>A	ENSP00000507209.1:p.Asn138Lys
ENST00000683078.1:c.508T>A	ENSP00000506796.1:p.Tyr170Asn
ENST00000683223.1:c.594T>A	ENSP00000507685.1:n.594T>A
ENST00000683238.1:n.2134T>A
ENST00000683249.1:n.2334T>A
ENST00000683336.1:c.683T>A	ENSP00000507695.1:n.683T>A
ENST00000683362.1:c.414T>A	ENSP00000506985.1:p.Asn138Lys
ENST00000683850.1:n.676T>A
ENST00000683919.1:c.683T>A	ENSP00000507617.1:n.683T>A
ENST00000683953.1:c.664T>A	ENSP00000508375.1:n.664T>A
ENST00000684023.1:c.887T>A	ENSP00000507461.1:n.887T>A
ENST00000684064.1:c.444T>A	ENSP00000508192.1:p.Asn148Lys
ENST00000684089.1:n.2303T>A
ENST00000684149.1:c.*89T>A	ENSP00000507943.1:n.*89T>A
ENST00000684416.1:n.712T>A
ENST00000684540.1:c.683T>A	ENSP00000507987.1:n.683T>A
ENST00000453321.8:c.753T>A MANE Select	ENSP00000389998.3:p.Asn251Lys
ENST00000323130.7:c.723T>A	ENSP00000314488.3:p.Asn241Lys
ENST00000409623.7:c.510T>A	ENSP00000386966.3:p.Asn170Lys
ENST00000425545.2:n.200T>A
ENST00000452276.5:c.444T>A	ENSP00000388671.1:p.Asn148Lys
ENST00000453321.7:c.753T>A	ENSP00000389998.3:p.Asn251Lys
ENST00000453906.5:c.407-5592T>A	ENSP00000403035.1:n.407-5592T>A
ENST00000474944.5:n.427-5592T>A
ENST00000496213.5:n.218T>A
NM_001142301.1:c.510T>A , LRG_688t2:c.510T>A	NP_001135773.1:p.Asn170Lys
NM_153704.5:c.753T>A , LRG_688t1:c.753T>A	NP_714915.3:p.Asn251Lys
NR_024522.1:n.824T>A
XM_006716686.2:c.450T>A	XP_006716749.1:p.Asn150Lys
XM_006716687.2:c.153T>A	XP_006716750.1:p.Asn51Lys
XM_011517363.1:c.407-5592T>A	XP_011515665.1:n.407-5592T>A
XR_428387.1:n.811T>A
XR_928360.1:n.811T>A
XR_928361.1:n.811T>A
XR_928362.1:n.811T>A
XM_006716686.4:c.450T>A	XP_006716749.1:p.Asn150Lys
XM_011517363.3:c.407-5592T>A	XP_011515665.1:n.407-5592T>A
XM_024447326.1:c.99T>A	XP_024303094.1:p.Asn33Lys
XR_001745619.2:n.794T>A
XR_428387.2:n.794T>A
XR_928360.3:n.794T>A
XR_928362.3:n.794T>A
NM_153704.6:c.753T>A MANE Select	NP_714915.3:p.Asn251Lys
NR_024522.2:n.774T>A