Canonical Allele Identifier: CA371689877

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798573A>C (hg19) ; chr8:g.93786345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786345A>C , CM000670.2:g.93786345A>C	GRCh38
NC_000008.10:g.94798573A>C , CM000670.1:g.94798573A>C	GRCh37
NC_000008.9:g.94867749A>C	NCBI36
NG_009190.1:g.36502A>C , LRG_688:g.36502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1411A>C	ENSP00000314488.4:p.Ser471Arg
ENST00000409623.8:c.1366A>C	ENSP00000386966.4:p.Ser456Arg
ENST00000452276.6:c.1411A>C	ENSP00000388671.2:p.Ser471Arg
ENST00000453906.6:c.529A>C	ENSP00000403035.2:p.Ser177Arg
ENST00000520680.2:c.1411A>C	ENSP00000428785.2:p.Ser471Arg
ENST00000521517.6:c.1411A>C	ENSP00000430740.2:p.Ser471Arg
ENST00000681998.1:c.1232A>C	ENSP00000506773.1:n.1232A>C
ENST00000682036.1:c.529A>C	ENSP00000508390.1:p.Ser177Arg
ENST00000682577.1:c.1184A>C	ENSP00000506963.1:n.1184A>C
ENST00000682624.1:c.*985A>C	ENSP00000508343.1:n.*985A>C
ENST00000682700.1:c.1411A>C	ENSP00000507627.1:p.Ser471Arg
ENST00000682744.1:n.949A>C
ENST00000682804.1:n.1234A>C
ENST00000682837.1:c.900A>C	ENSP00000507920.1:n.900A>C
ENST00000682935.1:n.3461A>C
ENST00000682984.1:c.1072A>C	ENSP00000507209.1:p.Ser358Arg
ENST00000683078.1:c.1166A>C	ENSP00000506796.1:n.1166A>C
ENST00000683223.1:c.1143A>C	ENSP00000507685.1:n.1143A>C
ENST00000683238.1:n.2635A>C
ENST00000683249.1:n.3008A>C
ENST00000683336.1:c.1232A>C	ENSP00000507695.1:n.1232A>C
ENST00000683362.1:c.1072A>C	ENSP00000506985.1:p.Ser358Arg
ENST00000683850.1:n.1334A>C
ENST00000683919.1:c.1341A>C	ENSP00000507617.1:n.1341A>C
ENST00000683953.1:c.1322A>C	ENSP00000508375.1:n.1322A>C
ENST00000684023.1:c.1388A>C	ENSP00000507461.1:n.1388A>C
ENST00000684064.1:c.1102A>C	ENSP00000508192.1:p.Ser368Arg
ENST00000684089.1:n.2961A>C
ENST00000684149.1:c.*590A>C	ENSP00000507943.1:n.*590A>C
ENST00000684416.1:n.1370A>C
ENST00000684540.1:c.1341A>C	ENSP00000507987.1:n.1341A>C
ENST00000453321.8:c.1411A>C MANE Select	ENSP00000389998.3:p.Ser471Arg
ENST00000323130.7:c.1381A>C	ENSP00000314488.3:p.Ser461Arg
ENST00000409623.7:c.1168A>C	ENSP00000386966.3:p.Ser390Arg
ENST00000452276.5:c.1102A>C	ENSP00000388671.1:p.Ser368Arg
ENST00000453321.7:c.1411A>C	ENSP00000389998.3:p.Ser471Arg
ENST00000453906.5:c.529A>C	ENSP00000403035.1:p.Ser177Arg
ENST00000474944.5:n.549A>C
ENST00000520680.1:c.233A>C
NM_001142301.1:c.1168A>C , LRG_688t2:c.1168A>C	NP_001135773.1:p.Ser390Arg
NM_153704.5:c.1411A>C , LRG_688t1:c.1411A>C	NP_714915.3:p.Ser471Arg
NR_024522.1:n.1482A>C
XM_006716686.2:c.1108A>C	XP_006716749.1:p.Ser370Arg
XM_006716687.2:c.811A>C	XP_006716750.1:p.Ser271Arg
XM_011517363.1:c.529A>C	XP_011515665.1:p.Ser177Arg
XR_428387.1:n.1469A>C
XR_928360.1:n.1469A>C
XR_928361.1:n.1469A>C
XR_928362.1:n.1469A>C
XM_006716686.4:c.1108A>C	XP_006716749.1:p.Ser370Arg
XM_011517363.3:c.529A>C	XP_011515665.1:p.Ser177Arg
XM_024447326.1:c.757A>C	XP_024303094.1:p.Ser253Arg
XR_001745619.2:n.1452A>C
XR_428387.2:n.1452A>C
XR_928360.3:n.1452A>C
XR_928362.3:n.1452A>C
NM_153704.6:c.1411A>C MANE Select	NP_714915.3:p.Ser471Arg
NR_024522.2:n.1432A>C