Canonical Allele Identifier: CA130590

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 39821
• ClinVar RCV Id: RCV000033041
• dbSNP Id: rs397514609
• ExAC: 16:75590096 A / T
• gnomAD v2: 16-75590096-A-T
• gnomAD v3: 16-75556198-A-T
• gnomAD v4: 16-75556198-A-T
• MyVariant Identifiers: chr16:g.75590096A>T (hg19) ; chr16:g.75556198A>T (hg38)
• PubMed: PMID:23012439

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75556198A>T , CM000678.2:g.75556198A>T	GRCh38
NC_000016.9:g.75590096A>T , CM000678.1:g.75590096A>T	GRCh37
NC_000016.8:g.74147597A>T	NCBI36
NG_033109.1:g.5089T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685935.1:c.12T>A	ENSP00000510128.1:p.Tyr4Ter
ENST00000686547.1:c.12T>A	ENSP00000508790.1:p.Tyr4Ter
ENST00000688270.1:c.12T>A	ENSP00000509823.1:p.Tyr4Ter
ENST00000688618.1:c.12T>A	ENSP00000509271.1:p.Tyr4Ter
ENST00000689040.1:c.12T>A	ENSP00000508573.1:p.Tyr4Ter
ENST00000692097.1:c.12T>A	ENSP00000509668.1:p.Tyr4Ter
ENST00000692215.1:n.55T>A
ENST00000693457.1:c.12T>A	ENSP00000508414.1:p.Tyr4Ter
ENST00000693682.1:c.12T>A	ENSP00000508670.1:p.Tyr4Ter
ENST00000258173.11:c.12T>A MANE Select	ENSP00000258173.5:p.Tyr4Ter
ENST00000258173.10:c.12T>A	ENSP00000258173.5:p.Tyr4Ter
ENST00000561809.1:n.65T>A
ENST00000562410.5:c.12T>A	ENSP00000454582.1:p.Tyr4Ter
ENST00000564576.1:n.48T>A
ENST00000565067.5:c.12T>A	ENSP00000457254.1:p.Tyr4Ter
ENST00000568377.5:c.2T>A	ENSP00000476267.1:p.Met1Lys
ENST00000570006.5:c.12T>A	ENSP00000455520.1:p.Tyr4Ter
NM_001077416.2:c.74T>A	NP_001070884.2:p.Met25Lys
NM_001077418.2:c.12T>A	NP_001070886.1:p.Tyr4Ter
NR_074083.1:n.89T>A
NM_001077418.3:c.12T>A MANE Select	NP_001070886.1:p.Tyr4Ter
NR_074083.2:n.55T>A