Canonical Allele Identifier: CA371687765

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792857A>T (hg19) ; chr8:g.93780629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780629A>T , CM000670.2:g.93780629A>T	GRCh38
NC_000008.10:g.94792857A>T , CM000670.1:g.94792857A>T	GRCh37
NC_000008.9:g.94862033A>T	NCBI36
NG_009190.1:g.30786A>T , LRG_688:g.30786A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.751A>T	ENSP00000314488.4:p.Asn251Tyr
ENST00000409623.8:c.751A>T	ENSP00000386966.4:p.Asn251Tyr
ENST00000452276.6:c.751A>T	ENSP00000388671.2:p.Asn251Tyr
ENST00000453906.6:c.407-5594A>T	ENSP00000403035.2:n.407-5594A>T
ENST00000520680.2:c.751A>T	ENSP00000428785.2:p.Asn251Tyr
ENST00000521065.2:c.*468A>T	ENSP00000427947.2:n.*468A>T
ENST00000521517.6:c.751A>T	ENSP00000430740.2:p.Asn251Tyr
ENST00000681998.1:c.681A>T	ENSP00000506773.1:n.681A>T
ENST00000682036.1:c.407-5594A>T	ENSP00000508390.1:n.407-5594A>T
ENST00000682577.1:c.681A>T	ENSP00000506963.1:n.681A>T
ENST00000682624.1:c.*325A>T	ENSP00000508343.1:n.*325A>T
ENST00000682700.1:c.751A>T	ENSP00000507627.1:p.Asn251Tyr
ENST00000682744.1:n.289A>T
ENST00000682804.1:n.574A>T
ENST00000682837.1:c.506A>T	ENSP00000507920.1:p.Lys169Ile
ENST00000682935.1:n.2311A>T
ENST00000682984.1:c.412A>T	ENSP00000507209.1:p.Asn138Tyr
ENST00000683078.1:c.506A>T	ENSP00000506796.1:p.Lys169Ile
ENST00000683223.1:c.592A>T	ENSP00000507685.1:n.592A>T
ENST00000683238.1:n.2132A>T
ENST00000683249.1:n.2332A>T
ENST00000683336.1:c.681A>T	ENSP00000507695.1:n.681A>T
ENST00000683362.1:c.412A>T	ENSP00000506985.1:p.Asn138Tyr
ENST00000683850.1:n.674A>T
ENST00000683919.1:c.681A>T	ENSP00000507617.1:n.681A>T
ENST00000683953.1:c.662A>T	ENSP00000508375.1:n.662A>T
ENST00000684023.1:c.885A>T	ENSP00000507461.1:n.885A>T
ENST00000684064.1:c.442A>T	ENSP00000508192.1:p.Asn148Tyr
ENST00000684089.1:n.2301A>T
ENST00000684149.1:c.*87A>T	ENSP00000507943.1:n.*87A>T
ENST00000684416.1:n.710A>T
ENST00000684540.1:c.681A>T	ENSP00000507987.1:n.681A>T
ENST00000453321.8:c.751A>T MANE Select	ENSP00000389998.3:p.Asn251Tyr
ENST00000323130.7:c.721A>T	ENSP00000314488.3:p.Asn241Tyr
ENST00000409623.7:c.508A>T	ENSP00000386966.3:p.Asn170Tyr
ENST00000425545.2:n.198A>T
ENST00000452276.5:c.442A>T	ENSP00000388671.1:p.Asn148Tyr
ENST00000453321.7:c.751A>T	ENSP00000389998.3:p.Asn251Tyr
ENST00000453906.5:c.407-5594A>T	ENSP00000403035.1:n.407-5594A>T
ENST00000474944.5:n.427-5594A>T
ENST00000496213.5:n.216A>T
NM_001142301.1:c.508A>T , LRG_688t2:c.508A>T	NP_001135773.1:p.Asn170Tyr
NM_153704.5:c.751A>T , LRG_688t1:c.751A>T	NP_714915.3:p.Asn251Tyr
NR_024522.1:n.822A>T
XM_006716686.2:c.448A>T	XP_006716749.1:p.Asn150Tyr
XM_006716687.2:c.151A>T	XP_006716750.1:p.Asn51Tyr
XM_011517363.1:c.407-5594A>T	XP_011515665.1:n.407-5594A>T
XR_428387.1:n.809A>T
XR_928360.1:n.809A>T
XR_928361.1:n.809A>T
XR_928362.1:n.809A>T
XM_006716686.4:c.448A>T	XP_006716749.1:p.Asn150Tyr
XM_011517363.3:c.407-5594A>T	XP_011515665.1:n.407-5594A>T
XM_024447326.1:c.97A>T	XP_024303094.1:p.Asn33Tyr
XR_001745619.2:n.792A>T
XR_428387.2:n.792A>T
XR_928360.3:n.792A>T
XR_928362.3:n.792A>T
NM_153704.6:c.751A>T MANE Select	NP_714915.3:p.Asn251Tyr
NR_024522.2:n.772A>T