Canonical Allele Identifier: CA461855757

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793145T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780917T>C , CM000670.2:g.93780917T>C	GRCh38
NC_000008.10:g.94793145T>C , CM000670.1:g.94793145T>C	GRCh37
NC_000008.9:g.94862321T>C	NCBI36
NG_009190.1:g.31074T>C , LRG_688:g.31074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.913T>C	ENSP00000314488.4:p.Leu305=
ENST00000409623.8:c.913T>C	ENSP00000386966.4:p.Leu305=
ENST00000452276.6:c.913T>C	ENSP00000388671.2:p.Leu305=
ENST00000453906.6:c.407-5306T>C	ENSP00000403035.2:n.407-5306T>C
ENST00000520680.2:c.913T>C	ENSP00000428785.2:p.Leu305=
ENST00000521065.2:c.*630T>C	ENSP00000427947.2:n.*630T>C
ENST00000521517.6:c.913T>C	ENSP00000430740.2:p.Leu305=
ENST00000681998.1:c.799+170T>C	ENSP00000506773.1:n.799+170T>C
ENST00000682036.1:c.407-5306T>C	ENSP00000508390.1:n.407-5306T>C
ENST00000682577.1:c.843T>C	ENSP00000506963.1:n.843T>C
ENST00000682624.1:c.*487T>C	ENSP00000508343.1:n.*487T>C
ENST00000682700.1:c.913T>C	ENSP00000507627.1:p.Leu305=
ENST00000682744.1:n.451T>C
ENST00000682804.1:n.736T>C
ENST00000682837.1:c.624+170T>C	ENSP00000507920.1:n.624+170T>C
ENST00000682935.1:n.2473T>C
ENST00000682984.1:c.574T>C	ENSP00000507209.1:p.Leu192=
ENST00000683078.1:c.668T>C	ENSP00000506796.1:n.668T>C
ENST00000683223.1:c.710+170T>C	ENSP00000507685.1:n.710+170T>C
ENST00000683238.1:n.2294T>C
ENST00000683249.1:n.2510T>C
ENST00000683336.1:c.799+170T>C	ENSP00000507695.1:n.799+170T>C
ENST00000683362.1:c.574T>C	ENSP00000506985.1:p.Leu192=
ENST00000683850.1:n.836T>C
ENST00000683919.1:c.843T>C	ENSP00000507617.1:n.843T>C
ENST00000683953.1:c.824T>C	ENSP00000508375.1:n.824T>C
ENST00000684023.1:c.1047T>C	ENSP00000507461.1:n.1047T>C
ENST00000684064.1:c.604T>C	ENSP00000508192.1:p.Leu202=
ENST00000684089.1:n.2463T>C
ENST00000684149.1:c.*249T>C	ENSP00000507943.1:n.*249T>C
ENST00000684416.1:n.872T>C
ENST00000684540.1:c.843T>C	ENSP00000507987.1:n.843T>C
ENST00000453321.8:c.913T>C MANE Select	ENSP00000389998.3:p.Leu305=
ENST00000323130.7:c.883T>C	ENSP00000314488.3:p.Leu295=
ENST00000409623.7:c.670T>C	ENSP00000386966.3:p.Leu224=
ENST00000425545.2:n.360T>C
ENST00000452276.5:c.604T>C	ENSP00000388671.1:p.Leu202=
ENST00000453321.7:c.913T>C	ENSP00000389998.3:p.Leu305=
ENST00000453906.5:c.407-5306T>C	ENSP00000403035.1:n.407-5306T>C
ENST00000474944.5:n.427-5306T>C
ENST00000496213.5:n.378T>C
NM_001142301.1:c.670T>C , LRG_688t2:c.670T>C	NP_001135773.1:p.Leu224=
NM_153704.5:c.913T>C , LRG_688t1:c.913T>C	NP_714915.3:p.Leu305=
NR_024522.1:n.984T>C
XM_006716686.2:c.610T>C	XP_006716749.1:p.Leu204=
XM_006716687.2:c.313T>C	XP_006716750.1:p.Leu105=
XM_011517363.1:c.407-5306T>C	XP_011515665.1:n.407-5306T>C
XR_428387.1:n.971T>C
XR_928360.1:n.971T>C
XR_928361.1:n.971T>C
XR_928362.1:n.971T>C
XM_006716686.4:c.610T>C	XP_006716749.1:p.Leu204=
XM_011517363.3:c.407-5306T>C	XP_011515665.1:n.407-5306T>C
XM_024447326.1:c.259T>C	XP_024303094.1:p.Leu87=
XR_001745619.2:n.954T>C
XR_428387.2:n.954T>C
XR_928360.3:n.954T>C
XR_928362.3:n.954T>C
NM_153704.6:c.913T>C MANE Select	NP_714915.3:p.Leu305=
NR_024522.2:n.934T>C