Canonical Allele Identifier: CA8176148
Community Standard Title: NM_001077418.3(TMEM231):c.582+1G>A
Gene: TMEM231 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75545351C>T , CM000678.2:g.75545351C>T GRCh38
NC_000016.9:g.75579249C>T , CM000678.1:g.75579249C>T GRCh37
NC_000016.8:g.74136750C>T NCBI36
NG_033109.1:g.15936G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001077418.3:c.582+1G>A MANE Select NP_001070886.1:n.582+1G>A
ENST00000258173.11:c.582+1G>A MANE Select ENSP00000258173.5:n.582+1G>A
NM_001077416.2:c.741+1G>A NP_001070884.2:n.741+1G>A
NM_001077418.2:c.582+1G>A NP_001070886.1:n.582+1G>A
NR_074083.1:n.782+1G>A
NR_074083.2:n.748+1G>A
ENST00000258173.10:c.582+1G>A ENSP00000258173.5:n.582+1G>A
ENST00000460606.1:c.77+1G>A
ENST00000562410.5:c.*384+1G>A ENSP00000454582.1:n.*384+1G>A
ENST00000564576.1:n.346-2668G>A
ENST00000565067.5:c.438+475G>A ENSP00000457254.1:n.438+475G>A
ENST00000568377.5:c.669+1G>A ENSP00000476267.1:n.669+1G>A
ENST00000569294.1:n.326+1G>A
ENST00000570006.5:c.544+1G>A ENSP00000455520.1:n.544+1G>A
ENST00000685935.1:c.*384+1G>A ENSP00000510128.1:n.*384+1G>A
ENST00000686547.1:c.*543+1G>A ENSP00000508790.1:n.*543+1G>A
ENST00000686680.1:c.267+1G>A ENSP00000508892.1:n.267+1G>A
ENST00000688195.1:c.210+1G>A ENSP00000510115.1:n.210+1G>A
ENST00000688270.1:c.582+1G>A ENSP00000509823.1:n.582+1G>A
ENST00000688618.1:c.*384+1G>A ENSP00000509271.1:n.*384+1G>A
ENST00000689040.1:c.*384+1G>A ENSP00000508573.1:n.*384+1G>A
ENST00000692097.1:c.*333+1G>A ENSP00000509668.1:n.*333+1G>A
ENST00000692689.1:c.234+1G>A ENSP00000509732.1:n.234+1G>A
ENST00000693457.1:c.*384+1G>A ENSP00000508414.1:n.*384+1G>A
ENST00000693682.1:c.582+1G>A ENSP00000508670.1:n.582+1G>A