Canonical Allele Identifier: CA396807047

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545891G>C , CM000678.2:g.75545891G>C	GRCh38
NC_000016.9:g.75579789G>C , CM000678.1:g.75579789G>C	GRCh37
NC_000016.8:g.74137290G>C	NCBI36
NG_033109.1:g.15396C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.373C>G MANE Select	NP_001070886.1:p.Pro125Ala
ENST00000258173.11:c.373C>G MANE Select	ENSP00000258173.5:p.Pro125Ala
NM_001077416.2:c.532C>G	NP_001070884.2:p.Pro178Ala
NM_001077418.2:c.373C>G	NP_001070886.1:p.Pro125Ala
NR_074083.1:n.573C>G
NR_074083.2:n.539C>G
ENST00000258173.10:c.373C>G	ENSP00000258173.5:p.Pro125Ala
ENST00000562410.5:c.*175C>G	ENSP00000454582.1:n.*175C>G
ENST00000564576.1:n.346-3208C>G
ENST00000565067.5:c.373C>G	ENSP00000457254.1:p.Pro125Ala
ENST00000568377.5:c.460C>G	ENSP00000476267.1:p.Pro154Ala
ENST00000569294.1:n.117C>G
ENST00000570006.5:c.373C>G	ENSP00000455520.1:p.Pro125Ala
ENST00000685935.1:c.*175C>G	ENSP00000510128.1:n.*175C>G
ENST00000686547.1:c.*334C>G	ENSP00000508790.1:n.*334C>G
ENST00000686680.1:c.96C>G	ENSP00000508892.1:p.Phe32Leu
ENST00000688195.1:c.39C>G	ENSP00000510115.1:p.Phe13Leu
ENST00000688270.1:c.373C>G	ENSP00000509823.1:p.Pro125Ala
ENST00000688618.1:c.*175C>G	ENSP00000509271.1:n.*175C>G
ENST00000689040.1:c.*175C>G	ENSP00000508573.1:n.*175C>G
ENST00000692097.1:c.*124C>G	ENSP00000509668.1:n.*124C>G
ENST00000692215.1:n.539C>G
ENST00000692689.1:c.25C>G	ENSP00000509732.1:p.Pro9Ala
ENST00000693457.1:c.*175C>G	ENSP00000508414.1:n.*175C>G
ENST00000693682.1:c.373C>G	ENSP00000508670.1:p.Pro125Ala