Canonical Allele Identifier: CA8175993

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540025C>T , CM000678.2:g.75540025C>T	GRCh38
NC_000016.9:g.75573923C>T , CM000678.1:g.75573923C>T	GRCh37
NC_000016.8:g.74131424C>T	NCBI36
NG_029853.1:g.146G>A
NG_033109.1:g.21262G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.920G>A MANE Select	NP_001070886.1:p.Arg307Gln
ENST00000258173.11:c.920G>A MANE Select	ENSP00000258173.5:p.Arg307Gln
NM_001077416.2:c.1079G>A	NP_001070884.2:p.Arg360Gln
NM_001077418.2:c.920G>A	NP_001070886.1:p.Arg307Gln
NR_074083.1:n.1120G>A
NR_074083.2:n.1086G>A
ENST00000258173.10:c.920G>A	ENSP00000258173.5:p.Arg307Gln
ENST00000460606.1:c.159+2577G>A
ENST00000562410.5:c.*722G>A	ENSP00000454582.1:n.*722G>A
ENST00000564318.1:n.845G>A
ENST00000565067.5:c.776G>A	ENSP00000457254.1:p.Arg259Gln
ENST00000568377.5:c.1007G>A	ENSP00000476267.1:p.Arg336Gln
ENST00000570006.5:c.*300G>A	ENSP00000455520.1:n.*300G>A
ENST00000685935.1:c.*554G>A	ENSP00000510128.1:n.*554G>A
ENST00000686680.1:c.605G>A	ENSP00000508892.1:p.Arg202Gln
ENST00000688195.1:c.548G>A	ENSP00000510115.1:p.Arg183Gln
ENST00000688270.1:c.*241G>A	ENSP00000509823.1:n.*241G>A
ENST00000688618.1:c.*747G>A	ENSP00000509271.1:n.*747G>A
ENST00000689040.1:c.*1027G>A	ENSP00000508573.1:n.*1027G>A
ENST00000692097.1:c.*671G>A	ENSP00000509668.1:n.*671G>A
ENST00000692689.1:c.572G>A	ENSP00000509732.1:p.Arg191Gln
ENST00000693457.1:c.*1145G>A	ENSP00000508414.1:n.*1145G>A
ENST00000693682.1:c.*564G>A	ENSP00000508670.1:n.*564G>A