Canonical Allele Identifier: CA8175983

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 257328
• ClinVar RCV Id: RCV000252500
• dbSNP Id: rs2242407
• ExAC: 16:75573884 T / C
• gnomAD v2: 16-75573884-T-C
• gnomAD v3: 16-75539986-T-C
• gnomAD v4: 16-75539986-T-C
• MyVariant Identifiers: chr16:g.75573884T>C (hg19) ; chr16:g.75539986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75539986T>C , CM000678.2:g.75539986T>C	GRCh38
NC_000016.9:g.75573884T>C , CM000678.1:g.75573884T>C	GRCh37
NC_000016.8:g.74131385T>C	NCBI36
NG_029853.1:g.185A>G
NG_033109.1:g.21301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*593A>G	ENSP00000510128.1:n.*593A>G
ENST00000686680.1:c.644A>G	ENSP00000508892.1:n.644A>G
ENST00000688195.1:c.*8A>G	ENSP00000510115.1:n.*8A>G
ENST00000688270.1:c.*280A>G	ENSP00000509823.1:n.*280A>G
ENST00000688618.1:c.*786A>G	ENSP00000509271.1:n.*786A>G
ENST00000689040.1:c.*1066A>G	ENSP00000508573.1:n.*1066A>G
ENST00000692097.1:c.*710A>G	ENSP00000509668.1:n.*710A>G
ENST00000692689.1:c.*8A>G	ENSP00000509732.1:n.*8A>G
ENST00000693457.1:c.*1184A>G	ENSP00000508414.1:n.*1184A>G
ENST00000693682.1:c.*603A>G	ENSP00000508670.1:n.*603A>G
ENST00000258173.11:c.*8A>G MANE Select	ENSP00000258173.5:n.*8A>G
ENST00000258173.10:c.*8A>G	ENSP00000258173.5:n.*8A>G
ENST00000460606.1:c.159+2616A>G
ENST00000562410.5:c.*761A>G	ENSP00000454582.1:n.*761A>G
ENST00000564318.1:n.884A>G
ENST00000565067.5:c.*8A>G	ENSP00000457254.1:n.*8A>G
ENST00000568377.5:c.*8A>G	ENSP00000476267.1:n.*8A>G
NM_001077416.2:c.*8A>G	NP_001070884.2:n.*8A>G
NM_001077418.2:c.*8A>G	NP_001070886.1:n.*8A>G
NR_074083.1:n.1159A>G
NM_001077418.3:c.*8A>G MANE Select	NP_001070886.1:n.*8A>G
NR_074083.2:n.1125A>G