Canonical Allele Identifier: CA371687772

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792860A>C (hg19) ; chr8:g.93780632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780632A>C , CM000670.2:g.93780632A>C	GRCh38
NC_000008.10:g.94792860A>C , CM000670.1:g.94792860A>C	GRCh37
NC_000008.9:g.94862036A>C	NCBI36
NG_009190.1:g.30789A>C , LRG_688:g.30789A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.754A>C	ENSP00000314488.4:p.Met252Leu
ENST00000409623.8:c.754A>C	ENSP00000386966.4:p.Met252Leu
ENST00000452276.6:c.754A>C	ENSP00000388671.2:p.Met252Leu
ENST00000453906.6:c.407-5591A>C	ENSP00000403035.2:n.407-5591A>C
ENST00000520680.2:c.754A>C	ENSP00000428785.2:p.Met252Leu
ENST00000521065.2:c.*471A>C	ENSP00000427947.2:n.*471A>C
ENST00000521517.6:c.754A>C	ENSP00000430740.2:p.Met252Leu
ENST00000681998.1:c.684A>C	ENSP00000506773.1:n.684A>C
ENST00000682036.1:c.407-5591A>C	ENSP00000508390.1:n.407-5591A>C
ENST00000682577.1:c.684A>C	ENSP00000506963.1:n.684A>C
ENST00000682624.1:c.*328A>C	ENSP00000508343.1:n.*328A>C
ENST00000682700.1:c.754A>C	ENSP00000507627.1:p.Met252Leu
ENST00000682744.1:n.292A>C
ENST00000682804.1:n.577A>C
ENST00000682837.1:c.509A>C	ENSP00000507920.1:p.Tyr170Ser
ENST00000682935.1:n.2314A>C
ENST00000682984.1:c.415A>C	ENSP00000507209.1:p.Met139Leu
ENST00000683078.1:c.509A>C	ENSP00000506796.1:p.Tyr170Ser
ENST00000683223.1:c.595A>C	ENSP00000507685.1:n.595A>C
ENST00000683238.1:n.2135A>C
ENST00000683249.1:n.2335A>C
ENST00000683336.1:c.684A>C	ENSP00000507695.1:n.684A>C
ENST00000683362.1:c.415A>C	ENSP00000506985.1:p.Met139Leu
ENST00000683850.1:n.677A>C
ENST00000683919.1:c.684A>C	ENSP00000507617.1:n.684A>C
ENST00000683953.1:c.665A>C	ENSP00000508375.1:n.665A>C
ENST00000684023.1:c.888A>C	ENSP00000507461.1:n.888A>C
ENST00000684064.1:c.445A>C	ENSP00000508192.1:p.Met149Leu
ENST00000684089.1:n.2304A>C
ENST00000684149.1:c.*90A>C	ENSP00000507943.1:n.*90A>C
ENST00000684416.1:n.713A>C
ENST00000684540.1:c.684A>C	ENSP00000507987.1:n.684A>C
ENST00000453321.8:c.754A>C MANE Select	ENSP00000389998.3:p.Met252Leu
ENST00000323130.7:c.724A>C	ENSP00000314488.3:p.Met242Leu
ENST00000409623.7:c.511A>C	ENSP00000386966.3:p.Met171Leu
ENST00000425545.2:n.201A>C
ENST00000452276.5:c.445A>C	ENSP00000388671.1:p.Met149Leu
ENST00000453321.7:c.754A>C	ENSP00000389998.3:p.Met252Leu
ENST00000453906.5:c.407-5591A>C	ENSP00000403035.1:n.407-5591A>C
ENST00000474944.5:n.427-5591A>C
ENST00000496213.5:n.219A>C
NM_001142301.1:c.511A>C , LRG_688t2:c.511A>C	NP_001135773.1:p.Met171Leu
NM_153704.5:c.754A>C , LRG_688t1:c.754A>C	NP_714915.3:p.Met252Leu
NR_024522.1:n.825A>C
XM_006716686.2:c.451A>C	XP_006716749.1:p.Met151Leu
XM_006716687.2:c.154A>C	XP_006716750.1:p.Met52Leu
XM_011517363.1:c.407-5591A>C	XP_011515665.1:n.407-5591A>C
XR_428387.1:n.812A>C
XR_928360.1:n.812A>C
XR_928361.1:n.812A>C
XR_928362.1:n.812A>C
XM_006716686.4:c.451A>C	XP_006716749.1:p.Met151Leu
XM_011517363.3:c.407-5591A>C	XP_011515665.1:n.407-5591A>C
XM_024447326.1:c.100A>C	XP_024303094.1:p.Met34Leu
XR_001745619.2:n.795A>C
XR_428387.2:n.795A>C
XR_928360.3:n.795A>C
XR_928362.3:n.795A>C
NM_153704.6:c.754A>C MANE Select	NP_714915.3:p.Met252Leu
NR_024522.2:n.775A>C