Canonical Allele Identifier: CA623359940
Gene: TMEM231 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75541468C>G , CM000678.2:g.75541468C>G GRCh38
NC_000016.9:g.75575366C>G , CM000678.1:g.75575366C>G GRCh37
NC_000016.8:g.74132867C>G NCBI36
NG_033109.1:g.19819G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685935.1:c.*513+1087G>C ENSP00000510128.1:n.*513+1087G>C
ENST00000686547.1:c.*626-13G>C ENSP00000508790.1:n.*626-13G>C
ENST00000686680.1:c.350-13G>C ENSP00000508892.1:n.350-13G>C
ENST00000688195.1:c.293-13G>C ENSP00000510115.1:n.293-13G>C
ENST00000688270.1:c.676-13G>C ENSP00000509823.1:n.676-13G>C
ENST00000688618.1:c.*492-13G>C ENSP00000509271.1:n.*492-13G>C
ENST00000689040.1:c.*763-13G>C ENSP00000508573.1:n.*763-13G>C
ENST00000692097.1:c.*416-13G>C ENSP00000509668.1:n.*416-13G>C
ENST00000692689.1:c.317-13G>C ENSP00000509732.1:n.317-13G>C
ENST00000693457.1:c.*514-812G>C ENSP00000508414.1:n.*514-812G>C
ENST00000693682.1:c.665-812G>C ENSP00000508670.1:n.665-812G>C
ENST00000258173.11:c.665-13G>C MANE Select ENSP00000258173.5:n.665-13G>C
ENST00000258173.10:c.665-13G>C ENSP00000258173.5:n.665-13G>C
ENST00000460606.1:c.159+1134G>C
ENST00000562410.5:c.*467-13G>C ENSP00000454582.1:n.*467-13G>C
ENST00000564318.1:n.577G>C
ENST00000564576.1:n.475-13G>C
ENST00000565067.5:c.521-13G>C ENSP00000457254.1:n.521-13G>C
ENST00000568377.5:c.752-13G>C ENSP00000476267.1:n.752-13G>C
ENST00000569294.1:n.409-13G>C
ENST00000570006.5:c.*45-13G>C ENSP00000455520.1:n.*45-13G>C
NM_001077416.2:c.824-13G>C NP_001070884.2:n.824-13G>C
NM_001077418.2:c.665-13G>C NP_001070886.1:n.665-13G>C
NR_074083.1:n.865-13G>C
NM_001077418.3:c.665-13G>C MANE Select NP_001070886.1:n.665-13G>C
NR_074083.2:n.831-13G>C