Canonical Allele Identifier: CA371687766

Gene: TMEM67

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.751A>C	ENSP00000314488.4:p.Asn251His
ENST00000409623.8:c.751A>C	ENSP00000386966.4:p.Asn251His
ENST00000452276.6:c.751A>C	ENSP00000388671.2:p.Asn251His
ENST00000453906.6:c.407-5594A>C	ENSP00000403035.2:n.407-5594A>C
ENST00000520680.2:c.751A>C	ENSP00000428785.2:p.Asn251His
ENST00000521065.2:c.*468A>C	ENSP00000427947.2:n.*468A>C
ENST00000521517.6:c.751A>C	ENSP00000430740.2:p.Asn251His
ENST00000681998.1:c.681A>C	ENSP00000506773.1:n.681A>C
ENST00000682036.1:c.407-5594A>C	ENSP00000508390.1:n.407-5594A>C
ENST00000682577.1:c.681A>C	ENSP00000506963.1:n.681A>C
ENST00000682624.1:c.*325A>C	ENSP00000508343.1:n.*325A>C
ENST00000682700.1:c.751A>C	ENSP00000507627.1:p.Asn251His
ENST00000682744.1:n.289A>C
ENST00000682804.1:n.574A>C
ENST00000682837.1:c.506A>C	ENSP00000507920.1:p.Lys169Thr
ENST00000682935.1:n.2311A>C
ENST00000682984.1:c.412A>C	ENSP00000507209.1:p.Asn138His
ENST00000683078.1:c.506A>C	ENSP00000506796.1:p.Lys169Thr
ENST00000683223.1:c.592A>C	ENSP00000507685.1:n.592A>C
ENST00000683238.1:n.2132A>C
ENST00000683249.1:n.2332A>C
ENST00000683336.1:c.681A>C	ENSP00000507695.1:n.681A>C
ENST00000683362.1:c.412A>C	ENSP00000506985.1:p.Asn138His
ENST00000683850.1:n.674A>C
ENST00000683919.1:c.681A>C	ENSP00000507617.1:n.681A>C
ENST00000683953.1:c.662A>C	ENSP00000508375.1:n.662A>C
ENST00000684023.1:c.885A>C	ENSP00000507461.1:n.885A>C
ENST00000684064.1:c.442A>C	ENSP00000508192.1:p.Asn148His
ENST00000684089.1:n.2301A>C
ENST00000684149.1:c.*87A>C	ENSP00000507943.1:n.*87A>C
ENST00000684416.1:n.710A>C
ENST00000684540.1:c.681A>C	ENSP00000507987.1:n.681A>C
ENST00000453321.8:c.751A>C MANE Select	ENSP00000389998.3:p.Asn251His
ENST00000323130.7:c.721A>C	ENSP00000314488.3:p.Asn241His
ENST00000409623.7:c.508A>C	ENSP00000386966.3:p.Asn170His
ENST00000425545.2:n.198A>C
ENST00000452276.5:c.442A>C	ENSP00000388671.1:p.Asn148His
ENST00000453321.7:c.751A>C	ENSP00000389998.3:p.Asn251His
ENST00000453906.5:c.407-5594A>C	ENSP00000403035.1:n.407-5594A>C
ENST00000474944.5:n.427-5594A>C
ENST00000496213.5:n.216A>C
NM_001142301.1:c.508A>C , LRG_688t2:c.508A>C	NP_001135773.1:p.Asn170His
NM_153704.5:c.751A>C , LRG_688t1:c.751A>C	NP_714915.3:p.Asn251His
NR_024522.1:n.822A>C
XM_006716686.2:c.448A>C	XP_006716749.1:p.Asn150His
XM_006716687.2:c.151A>C	XP_006716750.1:p.Asn51His
XM_011517363.1:c.407-5594A>C	XP_011515665.1:n.407-5594A>C
XR_428387.1:n.809A>C
XR_928360.1:n.809A>C
XR_928361.1:n.809A>C
XR_928362.1:n.809A>C
XM_006716686.4:c.448A>C	XP_006716749.1:p.Asn150His
XM_011517363.3:c.407-5594A>C	XP_011515665.1:n.407-5594A>C
XM_024447326.1:c.97A>C	XP_024303094.1:p.Asn33His
XR_001745619.2:n.792A>C
XR_428387.2:n.792A>C
XR_928360.3:n.792A>C
XR_928362.3:n.792A>C
NM_153704.6:c.751A>C MANE Select	NP_714915.3:p.Asn251His
NR_024522.2:n.772A>C