Canonical Allele Identifier: CA8175998

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 2166575
• ClinVar RCV Id: RCV003080151
• dbSNP Id: rs774482599
• ExAC: 16:75573939 C / T
• gnomAD v2: 16-75573939-C-T
• gnomAD v4: 16-75540041-C-T
• MyVariant Identifiers: chr16:g.75573939C>T (hg19) ; chr16:g.75540041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540041C>T , CM000678.2:g.75540041C>T	GRCh38
NC_000016.9:g.75573939C>T , CM000678.1:g.75573939C>T	GRCh37
NC_000016.8:g.74131440C>T	NCBI36
NG_029853.1:g.130G>A
NG_033109.1:g.21246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*538G>A	ENSP00000510128.1:n.*538G>A
ENST00000686680.1:c.589G>A	ENSP00000508892.1:p.Val197Met
ENST00000688195.1:c.532G>A	ENSP00000510115.1:p.Val178Met
ENST00000688270.1:c.*225G>A	ENSP00000509823.1:n.*225G>A
ENST00000688618.1:c.*731G>A	ENSP00000509271.1:n.*731G>A
ENST00000689040.1:c.*1011G>A	ENSP00000508573.1:n.*1011G>A
ENST00000692097.1:c.*655G>A	ENSP00000509668.1:n.*655G>A
ENST00000692689.1:c.556G>A	ENSP00000509732.1:p.Val186Met
ENST00000693457.1:c.*1129G>A	ENSP00000508414.1:n.*1129G>A
ENST00000693682.1:c.*548G>A	ENSP00000508670.1:n.*548G>A
ENST00000258173.11:c.904G>A MANE Select	ENSP00000258173.5:p.Val302Met
ENST00000258173.10:c.904G>A	ENSP00000258173.5:p.Val302Met
ENST00000460606.1:c.159+2561G>A
ENST00000562410.5:c.*706G>A	ENSP00000454582.1:n.*706G>A
ENST00000564318.1:n.829G>A
ENST00000565067.5:c.760G>A	ENSP00000457254.1:p.Val254Met
ENST00000568377.5:c.991G>A	ENSP00000476267.1:p.Val331Met
ENST00000570006.5:c.*284G>A	ENSP00000455520.1:n.*284G>A
NM_001077416.2:c.1063G>A	NP_001070884.2:p.Val355Met
NM_001077418.2:c.904G>A	NP_001070886.1:p.Val302Met
NR_074083.1:n.1104G>A
NM_001077418.3:c.904G>A MANE Select	NP_001070886.1:p.Val302Met
NR_074083.2:n.1070G>A