Canonical Allele Identifier: CA8176004

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540075G>A , CM000678.2:g.75540075G>A	GRCh38
NC_000016.9:g.75573973G>A , CM000678.1:g.75573973G>A	GRCh37
NC_000016.8:g.74131474G>A	NCBI36
NG_029853.1:g.96C>T
NG_033109.1:g.21212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.870C>T MANE Select	NP_001070886.1:p.Phe290=
ENST00000258173.11:c.870C>T MANE Select	ENSP00000258173.5:p.Phe290=
NM_001077416.2:c.1029C>T	NP_001070884.2:p.Phe343=
NM_001077418.2:c.870C>T	NP_001070886.1:p.Phe290=
NR_074083.1:n.1070C>T
NR_074083.2:n.1036C>T
ENST00000258173.10:c.870C>T	ENSP00000258173.5:p.Phe290=
ENST00000460606.1:c.159+2527C>T
ENST00000562410.5:c.*672C>T	ENSP00000454582.1:n.*672C>T
ENST00000564318.1:n.795C>T
ENST00000565067.5:c.726C>T	ENSP00000457254.1:p.Phe242=
ENST00000568377.5:c.957C>T	ENSP00000476267.1:p.Phe319=
ENST00000570006.5:c.*250C>T	ENSP00000455520.1:n.*250C>T
ENST00000685935.1:c.*514-10C>T	ENSP00000510128.1:n.*514-10C>T
ENST00000686680.1:c.555C>T	ENSP00000508892.1:p.Phe185=
ENST00000688195.1:c.498C>T	ENSP00000510115.1:p.Phe166=
ENST00000688270.1:c.*191C>T	ENSP00000509823.1:n.*191C>T
ENST00000688618.1:c.*697C>T	ENSP00000509271.1:n.*697C>T
ENST00000689040.1:c.*977C>T	ENSP00000508573.1:n.*977C>T
ENST00000692097.1:c.*621C>T	ENSP00000509668.1:n.*621C>T
ENST00000692689.1:c.522C>T	ENSP00000509732.1:p.Phe174=
ENST00000693457.1:c.*1095C>T	ENSP00000508414.1:n.*1095C>T
ENST00000693682.1:c.*514C>T	ENSP00000508670.1:n.*514C>T