Canonical Allele Identifier: CA8176101
Community Standard Title: NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
Gene: TMEM231 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75542603G>A , CM000678.2:g.75542603G>A GRCh38
NC_000016.9:g.75576501G>A , CM000678.1:g.75576501G>A GRCh37
NC_000016.8:g.74134002G>A NCBI36
NG_033109.1:g.18684C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001077418.3:c.663C>T MANE Select NP_001070886.1:p.Asn221=
ENST00000258173.11:c.663C>T MANE Select ENSP00000258173.5:p.Asn221=
NM_001077416.2:c.822C>T NP_001070884.2:p.Asn274=
NM_001077418.2:c.663C>T NP_001070886.1:p.Asn221=
NR_074083.1:n.863C>T
NR_074083.2:n.829C>T
ENST00000258173.10:c.663C>T ENSP00000258173.5:p.Asn221=
ENST00000460606.1:c.158C>T
ENST00000562410.5:c.*465C>T ENSP00000454582.1:n.*465C>T
ENST00000564576.1:n.426C>T
ENST00000565067.5:c.519C>T ENSP00000457254.1:p.Asn173=
ENST00000568377.5:c.750C>T ENSP00000476267.1:p.Asn250=
ENST00000569294.1:n.407C>T
ENST00000570006.5:c.*43C>T ENSP00000455520.1:n.*43C>T
ENST00000685935.1:c.*465C>T ENSP00000510128.1:n.*465C>T
ENST00000686547.1:c.*624C>T ENSP00000508790.1:n.*624C>T
ENST00000686680.1:c.348C>T ENSP00000508892.1:p.Asn116=
ENST00000688195.1:c.291C>T ENSP00000510115.1:p.Asn97=
ENST00000688270.1:c.663C>T ENSP00000509823.1:p.Asn221=
ENST00000688618.1:c.*465C>T ENSP00000509271.1:n.*465C>T
ENST00000689040.1:c.*761C>T ENSP00000508573.1:n.*761C>T
ENST00000692097.1:c.*414C>T ENSP00000509668.1:n.*414C>T
ENST00000692689.1:c.315C>T ENSP00000509732.1:p.Asn105=
ENST00000693457.1:c.*465C>T ENSP00000508414.1:n.*465C>T
ENST00000693682.1:c.663C>T ENSP00000508670.1:p.Asn221=