Canonical Allele Identifier: CA8176066

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541410C>G , CM000678.2:g.75541410C>G	GRCh38
NC_000016.9:g.75575308C>G , CM000678.1:g.75575308C>G	GRCh37
NC_000016.8:g.74132809C>G	NCBI36
NG_033109.1:g.19877G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.710G>C MANE Select	NP_001070886.1:p.Arg237Thr
ENST00000258173.11:c.710G>C MANE Select	ENSP00000258173.5:p.Arg237Thr
NM_001077416.2:c.869G>C	NP_001070884.2:p.Arg290Thr
NM_001077418.2:c.710G>C	NP_001070886.1:p.Arg237Thr
NR_074083.1:n.910G>C
NR_074083.2:n.876G>C
ENST00000258173.10:c.710G>C	ENSP00000258173.5:p.Arg237Thr
ENST00000460606.1:c.159+1192G>C
ENST00000562410.5:c.*512G>C	ENSP00000454582.1:n.*512G>C
ENST00000564318.1:n.635G>C
ENST00000564576.1:n.520G>C
ENST00000565067.5:c.566G>C	ENSP00000457254.1:p.Arg189Thr
ENST00000568377.5:c.797G>C	ENSP00000476267.1:p.Arg266Thr
ENST00000569294.1:n.454G>C
ENST00000570006.5:c.*90G>C	ENSP00000455520.1:n.*90G>C
ENST00000685935.1:c.*513+1145G>C	ENSP00000510128.1:n.*513+1145G>C
ENST00000686547.1:c.*671G>C	ENSP00000508790.1:n.*671G>C
ENST00000686680.1:c.395G>C	ENSP00000508892.1:p.Arg132Thr
ENST00000688195.1:c.338G>C	ENSP00000510115.1:p.Arg113Thr
ENST00000688270.1:c.*31G>C	ENSP00000509823.1:n.*31G>C
ENST00000688618.1:c.*537G>C	ENSP00000509271.1:n.*537G>C
ENST00000689040.1:c.*808G>C	ENSP00000508573.1:n.*808G>C
ENST00000692097.1:c.*461G>C	ENSP00000509668.1:n.*461G>C
ENST00000692689.1:c.362G>C	ENSP00000509732.1:p.Arg121Thr
ENST00000693457.1:c.*514-754G>C	ENSP00000508414.1:n.*514-754G>C
ENST00000693682.1:c.665-754G>C	ENSP00000508670.1:n.665-754G>C