Canonical Allele Identifier: CA496578479

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545849G>A , CM000678.2:g.75545849G>A	GRCh38
NC_000016.9:g.75579747G>A , CM000678.1:g.75579747G>A	GRCh37
NC_000016.8:g.74137248G>A	NCBI36
NG_033109.1:g.15438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.415C>T MANE Select	NP_001070886.1:p.Leu139=
ENST00000258173.11:c.415C>T MANE Select	ENSP00000258173.5:p.Leu139=
NM_001077416.2:c.574C>T	NP_001070884.2:p.Leu192=
NM_001077418.2:c.415C>T	NP_001070886.1:p.Leu139=
NR_074083.1:n.615C>T
NR_074083.2:n.581C>T
ENST00000258173.10:c.415C>T	ENSP00000258173.5:p.Leu139=
ENST00000562410.5:c.*217C>T	ENSP00000454582.1:n.*217C>T
ENST00000564576.1:n.346-3166C>T
ENST00000565067.5:c.415C>T	ENSP00000457254.1:p.Leu139=
ENST00000568377.5:c.502C>T	ENSP00000476267.1:p.Leu168=
ENST00000569294.1:n.159C>T
ENST00000570006.5:c.400+15C>T	ENSP00000455520.1:n.400+15C>T
ENST00000685935.1:c.*217C>T	ENSP00000510128.1:n.*217C>T
ENST00000686547.1:c.*376C>T	ENSP00000508790.1:n.*376C>T
ENST00000686680.1:c.123+15C>T	ENSP00000508892.1:n.123+15C>T
ENST00000688195.1:c.66+15C>T	ENSP00000510115.1:n.66+15C>T
ENST00000688270.1:c.415C>T	ENSP00000509823.1:p.Leu139=
ENST00000688618.1:c.*217C>T	ENSP00000509271.1:n.*217C>T
ENST00000689040.1:c.*217C>T	ENSP00000508573.1:n.*217C>T
ENST00000692097.1:c.*166C>T	ENSP00000509668.1:n.*166C>T
ENST00000692689.1:c.67C>T	ENSP00000509732.1:p.Leu23=
ENST00000693457.1:c.*217C>T	ENSP00000508414.1:n.*217C>T
ENST00000693682.1:c.415C>T	ENSP00000508670.1:p.Leu139=