Canonical Allele Identifier: CA144706

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 64620
• ClinVar RCV Id: RCV000054807 ; RCV003387749
• dbSNP Id: rs397514754
• gnomAD v4: 16-75540130-T-G
• MyVariant Identifiers: chr16:g.75574028T>G (hg19) ; chr16:g.75540130T>G (hg38)
• PubMed: PMID:23349226

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540130T>G , CM000678.2:g.75540130T>G	GRCh38
NC_000016.9:g.75574028T>G , CM000678.1:g.75574028T>G	GRCh37
NC_000016.8:g.74131529T>G	NCBI36
NG_029853.1:g.41A>C
NG_033109.1:g.21157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*514-65A>C	ENSP00000510128.1:n.*514-65A>C
ENST00000686680.1:c.500A>C	ENSP00000508892.1:p.Gln167Pro
ENST00000688195.1:c.443A>C	ENSP00000510115.1:p.Gln148Pro
ENST00000688270.1:c.*136A>C	ENSP00000509823.1:n.*136A>C
ENST00000688618.1:c.*642A>C	ENSP00000509271.1:n.*642A>C
ENST00000689040.1:c.*922A>C	ENSP00000508573.1:n.*922A>C
ENST00000692097.1:c.*566A>C	ENSP00000509668.1:n.*566A>C
ENST00000692689.1:c.467A>C	ENSP00000509732.1:p.Gln156Pro
ENST00000693457.1:c.*1040A>C	ENSP00000508414.1:n.*1040A>C
ENST00000693682.1:c.*459A>C	ENSP00000508670.1:n.*459A>C
ENST00000258173.11:c.815A>C MANE Select	ENSP00000258173.5:p.Gln272Pro
ENST00000258173.10:c.815A>C	ENSP00000258173.5:p.Gln272Pro
ENST00000460606.1:c.159+2472A>C
ENST00000562410.5:c.*617A>C	ENSP00000454582.1:n.*617A>C
ENST00000564318.1:n.740A>C
ENST00000565067.5:c.671A>C	ENSP00000457254.1:p.Gln224Pro
ENST00000568377.5:c.902A>C	ENSP00000476267.1:p.Gln301Pro
ENST00000569294.1:n.559A>C
ENST00000570006.5:c.*195A>C	ENSP00000455520.1:n.*195A>C
NM_001077416.2:c.974A>C	NP_001070884.2:p.Gln325Pro
NM_001077418.2:c.815A>C	NP_001070886.1:p.Gln272Pro
NR_074083.1:n.1015A>C
NM_001077418.3:c.815A>C MANE Select	NP_001070886.1:p.Gln272Pro
NR_074083.2:n.981A>C