Canonical Allele Identifier: CA396806904

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 437010
• ClinVar RCV Id: RCV000499980 ; RCV001857177
• dbSNP Id: rs1415483600
• gnomAD v2: 16-75579723-C-T
• gnomAD v3: 16-75545825-C-T
• gnomAD v4: 16-75545825-C-T
• MyVariant Identifiers: chr16:g.75579723C>T (hg19) ; chr16:g.75545825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545825C>T , CM000678.2:g.75545825C>T	GRCh38
NC_000016.9:g.75579723C>T , CM000678.1:g.75579723C>T	GRCh37
NC_000016.8:g.74137224C>T	NCBI36
NG_033109.1:g.15462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*240+1G>A	ENSP00000510128.1:n.*240+1G>A
ENST00000686547.1:c.*399+1G>A	ENSP00000508790.1:n.*399+1G>A
ENST00000686680.1:c.123+39G>A	ENSP00000508892.1:n.123+39G>A
ENST00000688195.1:c.66+39G>A	ENSP00000510115.1:n.66+39G>A
ENST00000688270.1:c.438+1G>A	ENSP00000509823.1:n.438+1G>A
ENST00000688618.1:c.*240+1G>A	ENSP00000509271.1:n.*240+1G>A
ENST00000689040.1:c.*240+1G>A	ENSP00000508573.1:n.*240+1G>A
ENST00000692097.1:c.*189+1G>A	ENSP00000509668.1:n.*189+1G>A
ENST00000692689.1:c.90+1G>A	ENSP00000509732.1:n.90+1G>A
ENST00000693457.1:c.*240+1G>A	ENSP00000508414.1:n.*240+1G>A
ENST00000693682.1:c.438+1G>A	ENSP00000508670.1:n.438+1G>A
ENST00000258173.11:c.438+1G>A MANE Select	ENSP00000258173.5:n.438+1G>A
ENST00000258173.10:c.438+1G>A	ENSP00000258173.5:n.438+1G>A
ENST00000562410.5:c.*240+1G>A	ENSP00000454582.1:n.*240+1G>A
ENST00000564576.1:n.346-3142G>A
ENST00000565067.5:c.438+1G>A	ENSP00000457254.1:n.438+1G>A
ENST00000568377.5:c.525+1G>A	ENSP00000476267.1:n.525+1G>A
ENST00000569294.1:n.182+1G>A
ENST00000570006.5:c.400+39G>A	ENSP00000455520.1:n.400+39G>A
NM_001077416.2:c.597+1G>A	NP_001070884.2:n.597+1G>A
NM_001077418.2:c.438+1G>A	NP_001070886.1:n.438+1G>A
NR_074083.1:n.638+1G>A
NM_001077418.3:c.438+1G>A MANE Select	NP_001070886.1:n.438+1G>A
NR_074083.2:n.604+1G>A