Canonical Allele Identifier: CA8176252
Community Standard Title: NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
Gene: TMEM231 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75555866A>C , CM000678.2:g.75555866A>C GRCh38
NC_000016.9:g.75589764A>C , CM000678.1:g.75589764A>C GRCh37
NC_000016.8:g.74147265A>C NCBI36
NG_033109.1:g.5421T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001077418.3:c.247T>G MANE Select NP_001070886.1:p.Trp83Gly
ENST00000258173.11:c.247T>G MANE Select ENSP00000258173.5:p.Trp83Gly
NM_001077416.2:c.406T>G NP_001070884.2:p.Trp136Gly
NM_001077418.2:c.247T>G NP_001070886.1:p.Trp83Gly
NR_074083.1:n.324T>G
NR_074083.2:n.290T>G
ENST00000258173.10:c.247T>G ENSP00000258173.5:p.Trp83Gly
ENST00000561809.1:n.397T>G
ENST00000562410.5:c.247T>G ENSP00000454582.1:p.Trp83Gly
ENST00000564576.1:n.283T>G
ENST00000565067.5:c.247T>G ENSP00000457254.1:p.Trp83Gly
ENST00000568377.5:c.334T>G ENSP00000476267.1:p.Trp112Gly
ENST00000570006.5:c.247T>G ENSP00000455520.1:p.Trp83Gly
ENST00000615437.1:c.60T>G
ENST00000685935.1:c.247T>G ENSP00000510128.1:p.Trp83Gly
ENST00000686547.1:c.247T>G ENSP00000508790.1:p.Trp83Gly
ENST00000688270.1:c.247T>G ENSP00000509823.1:p.Trp83Gly
ENST00000688618.1:c.247T>G ENSP00000509271.1:p.Trp83Gly
ENST00000689040.1:c.247T>G ENSP00000508573.1:p.Trp83Gly
ENST00000692097.1:c.247T>G ENSP00000509668.1:p.Trp83Gly
ENST00000692215.1:n.290T>G
ENST00000693457.1:c.247T>G ENSP00000508414.1:p.Trp83Gly
ENST00000693682.1:c.247T>G ENSP00000508670.1:p.Trp83Gly