Canonical Allele Identifier: CA496578294

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541418C>T , CM000678.2:g.75541418C>T	GRCh38
NC_000016.9:g.75575316C>T , CM000678.1:g.75575316C>T	GRCh37
NC_000016.8:g.74132817C>T	NCBI36
NG_033109.1:g.19869G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.702G>A MANE Select	NP_001070886.1:p.Leu234=
ENST00000258173.11:c.702G>A MANE Select	ENSP00000258173.5:p.Leu234=
NM_001077416.2:c.861G>A	NP_001070884.2:p.Leu287=
NM_001077418.2:c.702G>A	NP_001070886.1:p.Leu234=
NR_074083.1:n.902G>A
NR_074083.2:n.868G>A
ENST00000258173.10:c.702G>A	ENSP00000258173.5:p.Leu234=
ENST00000460606.1:c.159+1184G>A
ENST00000562410.5:c.*504G>A	ENSP00000454582.1:n.*504G>A
ENST00000564318.1:n.627G>A
ENST00000564576.1:n.512G>A
ENST00000565067.5:c.558G>A	ENSP00000457254.1:p.Leu186=
ENST00000568377.5:c.789G>A	ENSP00000476267.1:p.Leu263=
ENST00000569294.1:n.446G>A
ENST00000570006.5:c.*82G>A	ENSP00000455520.1:n.*82G>A
ENST00000685935.1:c.*513+1137G>A	ENSP00000510128.1:n.*513+1137G>A
ENST00000686547.1:c.*663G>A	ENSP00000508790.1:n.*663G>A
ENST00000686680.1:c.387G>A	ENSP00000508892.1:p.Leu129=
ENST00000688195.1:c.330G>A	ENSP00000510115.1:p.Leu110=
ENST00000688270.1:c.*23G>A	ENSP00000509823.1:n.*23G>A
ENST00000688618.1:c.*529G>A	ENSP00000509271.1:n.*529G>A
ENST00000689040.1:c.*800G>A	ENSP00000508573.1:n.*800G>A
ENST00000692097.1:c.*453G>A	ENSP00000509668.1:n.*453G>A
ENST00000692689.1:c.354G>A	ENSP00000509732.1:p.Leu118=
ENST00000693457.1:c.*514-762G>A	ENSP00000508414.1:n.*514-762G>A
ENST00000693682.1:c.665-762G>A	ENSP00000508670.1:n.665-762G>A