Canonical Allele Identifier: CA8176120

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75542682A>G , CM000678.2:g.75542682A>G	GRCh38
NC_000016.9:g.75576580A>G , CM000678.1:g.75576580A>G	GRCh37
NC_000016.8:g.74134081A>G	NCBI36
NG_033109.1:g.18605T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.584T>C MANE Select	NP_001070886.1:p.Ile195Thr
ENST00000258173.11:c.584T>C MANE Select	ENSP00000258173.5:p.Ile195Thr
NM_001077416.2:c.743T>C	NP_001070884.2:p.Ile248Thr
NM_001077418.2:c.584T>C	NP_001070886.1:p.Ile195Thr
NR_074083.1:n.784T>C
NR_074083.2:n.750T>C
ENST00000258173.10:c.584T>C	ENSP00000258173.5:p.Ile195Thr
ENST00000460606.1:c.79T>C
ENST00000562410.5:c.*386T>C	ENSP00000454582.1:n.*386T>C
ENST00000564576.1:n.347T>C
ENST00000565067.5:c.440T>C	ENSP00000457254.1:p.Ile147Thr
ENST00000568377.5:c.671T>C	ENSP00000476267.1:p.Ile224Thr
ENST00000569294.1:n.328T>C
ENST00000570006.5:c.546T>C	ENSP00000455520.1:p.His182=
ENST00000685935.1:c.*386T>C	ENSP00000510128.1:n.*386T>C
ENST00000686547.1:c.*545T>C	ENSP00000508790.1:n.*545T>C
ENST00000686680.1:c.269T>C	ENSP00000508892.1:p.Ile90Thr
ENST00000688195.1:c.212T>C	ENSP00000510115.1:p.Ile71Thr
ENST00000688270.1:c.584T>C	ENSP00000509823.1:p.Ile195Thr
ENST00000688618.1:c.*386T>C	ENSP00000509271.1:n.*386T>C
ENST00000689040.1:c.*682T>C	ENSP00000508573.1:n.*682T>C
ENST00000692097.1:c.*335T>C	ENSP00000509668.1:n.*335T>C
ENST00000692689.1:c.236T>C	ENSP00000509732.1:p.Ile79Thr
ENST00000693457.1:c.*386T>C	ENSP00000508414.1:n.*386T>C
ENST00000693682.1:c.584T>C	ENSP00000508670.1:p.Ile195Thr