Canonical Allele Identifier: CA371687779

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792862G>A (hg19) ; chr8:g.93780634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780634G>A , CM000670.2:g.93780634G>A	GRCh38
NC_000008.10:g.94792862G>A , CM000670.1:g.94792862G>A	GRCh37
NC_000008.9:g.94862038G>A	NCBI36
NG_009190.1:g.30791G>A , LRG_688:g.30791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.756G>A	ENSP00000314488.4:p.Met252Ile
ENST00000409623.8:c.756G>A	ENSP00000386966.4:p.Met252Ile
ENST00000452276.6:c.756G>A	ENSP00000388671.2:p.Met252Ile
ENST00000453906.6:c.407-5589G>A	ENSP00000403035.2:n.407-5589G>A
ENST00000520680.2:c.756G>A	ENSP00000428785.2:p.Met252Ile
ENST00000521065.2:c.*473G>A	ENSP00000427947.2:n.*473G>A
ENST00000521517.6:c.756G>A	ENSP00000430740.2:p.Met252Ile
ENST00000681998.1:c.686G>A	ENSP00000506773.1:n.686G>A
ENST00000682036.1:c.407-5589G>A	ENSP00000508390.1:n.407-5589G>A
ENST00000682577.1:c.686G>A	ENSP00000506963.1:n.686G>A
ENST00000682624.1:c.*330G>A	ENSP00000508343.1:n.*330G>A
ENST00000682700.1:c.756G>A	ENSP00000507627.1:p.Met252Ile
ENST00000682744.1:n.294G>A
ENST00000682804.1:n.579G>A
ENST00000682837.1:c.511G>A	ENSP00000507920.1:p.Val171Met
ENST00000682935.1:n.2316G>A
ENST00000682984.1:c.417G>A	ENSP00000507209.1:p.Met139Ile
ENST00000683078.1:c.511G>A	ENSP00000506796.1:p.Val171Met
ENST00000683223.1:c.597G>A	ENSP00000507685.1:n.597G>A
ENST00000683238.1:n.2137G>A
ENST00000683249.1:n.2337G>A
ENST00000683336.1:c.686G>A	ENSP00000507695.1:n.686G>A
ENST00000683362.1:c.417G>A	ENSP00000506985.1:p.Met139Ile
ENST00000683850.1:n.679G>A
ENST00000683919.1:c.686G>A	ENSP00000507617.1:n.686G>A
ENST00000683953.1:c.667G>A	ENSP00000508375.1:n.667G>A
ENST00000684023.1:c.890G>A	ENSP00000507461.1:n.890G>A
ENST00000684064.1:c.447G>A	ENSP00000508192.1:p.Met149Ile
ENST00000684089.1:n.2306G>A
ENST00000684149.1:c.*92G>A	ENSP00000507943.1:n.*92G>A
ENST00000684416.1:n.715G>A
ENST00000684540.1:c.686G>A	ENSP00000507987.1:n.686G>A
ENST00000453321.8:c.756G>A MANE Select	ENSP00000389998.3:p.Met252Ile
ENST00000323130.7:c.726G>A	ENSP00000314488.3:p.Met242Ile
ENST00000409623.7:c.513G>A	ENSP00000386966.3:p.Met171Ile
ENST00000425545.2:n.203G>A
ENST00000452276.5:c.447G>A	ENSP00000388671.1:p.Met149Ile
ENST00000453321.7:c.756G>A	ENSP00000389998.3:p.Met252Ile
ENST00000453906.5:c.407-5589G>A	ENSP00000403035.1:n.407-5589G>A
ENST00000474944.5:n.427-5589G>A
ENST00000496213.5:n.221G>A
NM_001142301.1:c.513G>A , LRG_688t2:c.513G>A	NP_001135773.1:p.Met171Ile
NM_153704.5:c.756G>A , LRG_688t1:c.756G>A	NP_714915.3:p.Met252Ile
NR_024522.1:n.827G>A
XM_006716686.2:c.453G>A	XP_006716749.1:p.Met151Ile
XM_006716687.2:c.156G>A	XP_006716750.1:p.Met52Ile
XM_011517363.1:c.407-5589G>A	XP_011515665.1:n.407-5589G>A
XR_428387.1:n.814G>A
XR_928360.1:n.814G>A
XR_928361.1:n.814G>A
XR_928362.1:n.814G>A
XM_006716686.4:c.453G>A	XP_006716749.1:p.Met151Ile
XM_011517363.3:c.407-5589G>A	XP_011515665.1:n.407-5589G>A
XM_024447326.1:c.102G>A	XP_024303094.1:p.Met34Ile
XR_001745619.2:n.797G>A
XR_428387.2:n.797G>A
XR_928360.3:n.797G>A
XR_928362.3:n.797G>A
NM_153704.6:c.756G>A MANE Select	NP_714915.3:p.Met252Ile
NR_024522.2:n.777G>A