Canonical Allele Identifier: CA283887441

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545390G>A , CM000678.2:g.75545390G>A	GRCh38
NC_000016.9:g.75579288G>A , CM000678.1:g.75579288G>A	GRCh37
NC_000016.8:g.74136789G>A	NCBI36
NG_033109.1:g.15897C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.544C>T MANE Select	NP_001070886.1:p.Gln182Ter
ENST00000258173.11:c.544C>T MANE Select	ENSP00000258173.5:p.Gln182Ter
NM_001077416.2:c.703C>T	NP_001070884.2:p.Gln235Ter
NM_001077418.2:c.544C>T	NP_001070886.1:p.Gln182Ter
NR_074083.1:n.744C>T
NR_074083.2:n.710C>T
ENST00000258173.10:c.544C>T	ENSP00000258173.5:p.Gln182Ter
ENST00000460606.1:c.39C>T
ENST00000562410.5:c.*346C>T	ENSP00000454582.1:n.*346C>T
ENST00000564576.1:n.346-2707C>T
ENST00000565067.5:c.438+436C>T	ENSP00000457254.1:n.438+436C>T
ENST00000568377.5:c.631C>T	ENSP00000476267.1:p.Gln211Ter
ENST00000569294.1:n.288C>T
ENST00000570006.5:c.506C>T	ENSP00000455520.1:p.Ala169Val
ENST00000685935.1:c.*346C>T	ENSP00000510128.1:n.*346C>T
ENST00000686547.1:c.*505C>T	ENSP00000508790.1:n.*505C>T
ENST00000686680.1:c.229C>T	ENSP00000508892.1:p.Gln77Ter
ENST00000688195.1:c.172C>T	ENSP00000510115.1:p.Gln58Ter
ENST00000688270.1:c.544C>T	ENSP00000509823.1:p.Gln182Ter
ENST00000688618.1:c.*346C>T	ENSP00000509271.1:n.*346C>T
ENST00000689040.1:c.*346C>T	ENSP00000508573.1:n.*346C>T
ENST00000692097.1:c.*295C>T	ENSP00000509668.1:n.*295C>T
ENST00000692689.1:c.196C>T	ENSP00000509732.1:p.Gln66Ter
ENST00000693457.1:c.*346C>T	ENSP00000508414.1:n.*346C>T
ENST00000693682.1:c.544C>T	ENSP00000508670.1:p.Gln182Ter