Canonical Allele Identifier: CA283885888

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541361C>T , CM000678.2:g.75541361C>T	GRCh38
NC_000016.9:g.75575259C>T , CM000678.1:g.75575259C>T	GRCh37
NC_000016.8:g.74132760C>T	NCBI36
NG_033109.1:g.19926G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.759G>A MANE Select	NP_001070886.1:p.Val253=
ENST00000258173.11:c.759G>A MANE Select	ENSP00000258173.5:p.Val253=
NM_001077416.2:c.918G>A	NP_001070884.2:p.Val306=
NM_001077418.2:c.759G>A	NP_001070886.1:p.Val253=
NR_074083.1:n.959G>A
NR_074083.2:n.925G>A
ENST00000258173.10:c.759G>A	ENSP00000258173.5:p.Val253=
ENST00000460606.1:c.159+1241G>A
ENST00000562410.5:c.*561G>A	ENSP00000454582.1:n.*561G>A
ENST00000564318.1:n.684G>A
ENST00000565067.5:c.615G>A	ENSP00000457254.1:p.Val205=
ENST00000568377.5:c.846G>A	ENSP00000476267.1:p.Val282=
ENST00000569294.1:n.503G>A
ENST00000570006.5:c.*139G>A	ENSP00000455520.1:n.*139G>A
ENST00000685935.1:c.*513+1194G>A	ENSP00000510128.1:n.*513+1194G>A
ENST00000686547.1:c.*720G>A	ENSP00000508790.1:n.*720G>A
ENST00000686680.1:c.444G>A	ENSP00000508892.1:p.Val148=
ENST00000688195.1:c.387G>A	ENSP00000510115.1:p.Val129=
ENST00000688270.1:c.*80G>A	ENSP00000509823.1:n.*80G>A
ENST00000688618.1:c.*586G>A	ENSP00000509271.1:n.*586G>A
ENST00000689040.1:c.*857G>A	ENSP00000508573.1:n.*857G>A
ENST00000692097.1:c.*510G>A	ENSP00000509668.1:n.*510G>A
ENST00000692689.1:c.411G>A	ENSP00000509732.1:p.Val137=
ENST00000693457.1:c.*514-705G>A	ENSP00000508414.1:n.*514-705G>A
ENST00000693682.1:c.665-705G>A	ENSP00000508670.1:n.665-705G>A