Canonical Allele Identifier: CA8176061

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 380471
• ClinVar RCV Id: RCV000878632 ; RCV001703598 ; RCV003959891 ; RCV004022329
• dbSNP Id: rs146210288
• ExAC: 16:75575299 T / C
• gnomAD v2: 16-75575299-T-C
• gnomAD v3: 16-75541401-T-C
• gnomAD v4: 16-75541401-T-C
• MyVariant Identifiers: chr16:g.75575299T>C (hg19) ; chr16:g.75541401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541401T>C , CM000678.2:g.75541401T>C	GRCh38
NC_000016.9:g.75575299T>C , CM000678.1:g.75575299T>C	GRCh37
NC_000016.8:g.74132800T>C	NCBI36
NG_033109.1:g.19886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*513+1154A>G	ENSP00000510128.1:n.*513+1154A>G
ENST00000686547.1:c.*680A>G	ENSP00000508790.1:n.*680A>G
ENST00000686680.1:c.404A>G	ENSP00000508892.1:p.Asp135Gly
ENST00000688195.1:c.347A>G	ENSP00000510115.1:p.Asp116Gly
ENST00000688270.1:c.*40A>G	ENSP00000509823.1:n.*40A>G
ENST00000688618.1:c.*546A>G	ENSP00000509271.1:n.*546A>G
ENST00000689040.1:c.*817A>G	ENSP00000508573.1:n.*817A>G
ENST00000692097.1:c.*470A>G	ENSP00000509668.1:n.*470A>G
ENST00000692689.1:c.371A>G	ENSP00000509732.1:p.Asp124Gly
ENST00000693457.1:c.*514-745A>G	ENSP00000508414.1:n.*514-745A>G
ENST00000693682.1:c.665-745A>G	ENSP00000508670.1:n.665-745A>G
ENST00000258173.11:c.719A>G MANE Select	ENSP00000258173.5:p.Asp240Gly
ENST00000258173.10:c.719A>G	ENSP00000258173.5:p.Asp240Gly
ENST00000460606.1:c.159+1201A>G
ENST00000562410.5:c.*521A>G	ENSP00000454582.1:n.*521A>G
ENST00000564318.1:n.644A>G
ENST00000564576.1:n.529A>G
ENST00000565067.5:c.575A>G	ENSP00000457254.1:p.Asp192Gly
ENST00000568377.5:c.806A>G	ENSP00000476267.1:p.Asp269Gly
ENST00000569294.1:n.463A>G
ENST00000570006.5:c.*99A>G	ENSP00000455520.1:n.*99A>G
NM_001077416.2:c.878A>G	NP_001070884.2:p.Asp293Gly
NM_001077418.2:c.719A>G	NP_001070886.1:p.Asp240Gly
NR_074083.1:n.919A>G
NM_001077418.3:c.719A>G MANE Select	NP_001070886.1:p.Asp240Gly
NR_074083.2:n.885A>G