Canonical Allele Identifier: CA8176170
Gene: TMEM231 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75545436C>T , CM000678.2:g.75545436C>T GRCh38
NC_000016.9:g.75579334C>T , CM000678.1:g.75579334C>T GRCh37
NC_000016.8:g.74136835C>T NCBI36
NG_033109.1:g.15851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685935.1:c.*300G>A ENSP00000510128.1:n.*300G>A
ENST00000686547.1:c.*459G>A ENSP00000508790.1:n.*459G>A
ENST00000686680.1:c.183G>A ENSP00000508892.1:p.Pro61=
ENST00000688195.1:c.126G>A ENSP00000510115.1:p.Pro42=
ENST00000688270.1:c.498G>A ENSP00000509823.1:p.Pro166=
ENST00000688618.1:c.*300G>A ENSP00000509271.1:n.*300G>A
ENST00000689040.1:c.*300G>A ENSP00000508573.1:n.*300G>A
ENST00000692097.1:c.*249G>A ENSP00000509668.1:n.*249G>A
ENST00000692689.1:c.150G>A ENSP00000509732.1:p.Pro50=
ENST00000693457.1:c.*300G>A ENSP00000508414.1:n.*300G>A
ENST00000693682.1:c.498G>A ENSP00000508670.1:p.Pro166=
ENST00000258173.11:c.498G>A MANE Select ENSP00000258173.5:p.Pro166=
ENST00000258173.10:c.498G>A ENSP00000258173.5:p.Pro166=
ENST00000562410.5:c.*300G>A ENSP00000454582.1:n.*300G>A
ENST00000564576.1:n.346-2753G>A
ENST00000565067.5:c.438+390G>A ENSP00000457254.1:n.438+390G>A
ENST00000568377.5:c.585G>A ENSP00000476267.1:p.Pro195=
ENST00000569294.1:n.242G>A
ENST00000570006.5:c.460G>A ENSP00000455520.1:p.Gly154Arg
NM_001077416.2:c.657G>A NP_001070884.2:p.Pro219=
NM_001077418.2:c.498G>A NP_001070886.1:p.Pro166=
NR_074083.1:n.698G>A
NM_001077418.3:c.498G>A MANE Select NP_001070886.1:p.Pro166=
NR_074083.2:n.664G>A