Canonical Allele Identifier: CA8176200

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545865G>A , CM000678.2:g.75545865G>A	GRCh38
NC_000016.9:g.75579763G>A , CM000678.1:g.75579763G>A	GRCh37
NC_000016.8:g.74137264G>A	NCBI36
NG_033109.1:g.15422C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.399C>T MANE Select	NP_001070886.1:p.Leu133=
ENST00000258173.11:c.399C>T MANE Select	ENSP00000258173.5:p.Leu133=
NM_001077416.2:c.558C>T	NP_001070884.2:p.Leu186=
NM_001077418.2:c.399C>T	NP_001070886.1:p.Leu133=
NR_074083.1:n.599C>T
NR_074083.2:n.565C>T
ENST00000258173.10:c.399C>T	ENSP00000258173.5:p.Leu133=
ENST00000562410.5:c.*201C>T	ENSP00000454582.1:n.*201C>T
ENST00000564576.1:n.346-3182C>T
ENST00000565067.5:c.399C>T	ENSP00000457254.1:p.Leu133=
ENST00000568377.5:c.486C>T	ENSP00000476267.1:p.Leu162=
ENST00000569294.1:n.143C>T
ENST00000570006.5:c.399C>T	ENSP00000455520.1:p.Leu133=
ENST00000685935.1:c.*201C>T	ENSP00000510128.1:n.*201C>T
ENST00000686547.1:c.*360C>T	ENSP00000508790.1:n.*360C>T
ENST00000686680.1:c.122C>T	ENSP00000508892.1:p.Ser41Leu
ENST00000688195.1:c.65C>T	ENSP00000510115.1:p.Ser22Leu
ENST00000688270.1:c.399C>T	ENSP00000509823.1:p.Leu133=
ENST00000688618.1:c.*201C>T	ENSP00000509271.1:n.*201C>T
ENST00000689040.1:c.*201C>T	ENSP00000508573.1:n.*201C>T
ENST00000692097.1:c.*150C>T	ENSP00000509668.1:n.*150C>T
ENST00000692215.1:n.565C>T
ENST00000692689.1:c.51C>T	ENSP00000509732.1:p.Leu17=
ENST00000693457.1:c.*201C>T	ENSP00000508414.1:n.*201C>T
ENST00000693682.1:c.399C>T	ENSP00000508670.1:p.Leu133=