Canonical Allele Identifier: CA8176052

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 499740
• ClinVar RCV Id: RCV000593061 ; RCV002065162 ; RCV003160029
• dbSNP Id: rs369010440
• ExAC: 16:75575269 C / T
• gnomAD v2: 16-75575269-C-T
• gnomAD v3: 16-75541371-C-T
• gnomAD v4: 16-75541371-C-T
• MyVariant Identifiers: chr16:g.75575269C>T (hg19) ; chr16:g.75541371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541371C>T , CM000678.2:g.75541371C>T	GRCh38
NC_000016.9:g.75575269C>T , CM000678.1:g.75575269C>T	GRCh37
NC_000016.8:g.74132770C>T	NCBI36
NG_033109.1:g.19916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*513+1184G>A	ENSP00000510128.1:n.*513+1184G>A
ENST00000686547.1:c.*710G>A	ENSP00000508790.1:n.*710G>A
ENST00000686680.1:c.434G>A	ENSP00000508892.1:p.Arg145Gln
ENST00000688195.1:c.377G>A	ENSP00000510115.1:p.Arg126Gln
ENST00000688270.1:c.*70G>A	ENSP00000509823.1:n.*70G>A
ENST00000688618.1:c.*576G>A	ENSP00000509271.1:n.*576G>A
ENST00000689040.1:c.*847G>A	ENSP00000508573.1:n.*847G>A
ENST00000692097.1:c.*500G>A	ENSP00000509668.1:n.*500G>A
ENST00000692689.1:c.401G>A	ENSP00000509732.1:p.Arg134Gln
ENST00000693457.1:c.*514-715G>A	ENSP00000508414.1:n.*514-715G>A
ENST00000693682.1:c.665-715G>A	ENSP00000508670.1:n.665-715G>A
ENST00000258173.11:c.749G>A MANE Select	ENSP00000258173.5:p.Arg250Gln
ENST00000258173.10:c.749G>A	ENSP00000258173.5:p.Arg250Gln
ENST00000460606.1:c.159+1231G>A
ENST00000562410.5:c.*551G>A	ENSP00000454582.1:n.*551G>A
ENST00000564318.1:n.674G>A
ENST00000565067.5:c.605G>A	ENSP00000457254.1:p.Arg202Gln
ENST00000568377.5:c.836G>A	ENSP00000476267.1:p.Arg279Gln
ENST00000569294.1:n.493G>A
ENST00000570006.5:c.*129G>A	ENSP00000455520.1:n.*129G>A
NM_001077416.2:c.908G>A	NP_001070884.2:p.Arg303Gln
NM_001077418.2:c.749G>A	NP_001070886.1:p.Arg250Gln
NR_074083.1:n.949G>A
NM_001077418.3:c.749G>A MANE Select	NP_001070886.1:p.Arg250Gln
NR_074083.2:n.915G>A