Canonical Allele Identifier: CA8176057

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 285611
• ClinVar RCV Id: RCV000387372 ; RCV000650604
• dbSNP Id: rs746025189
• ExAC: 16:75575291 A / G
• gnomAD v2: 16-75575291-A-G
• gnomAD v3: 16-75541393-A-G
• gnomAD v4: 16-75541393-A-G
• MyVariant Identifiers: chr16:g.75575291A>G (hg19) ; chr16:g.75541393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541393A>G , CM000678.2:g.75541393A>G	GRCh38
NC_000016.9:g.75575291A>G , CM000678.1:g.75575291A>G	GRCh37
NC_000016.8:g.74132792A>G	NCBI36
NG_033109.1:g.19894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*513+1162T>C	ENSP00000510128.1:n.*513+1162T>C
ENST00000686547.1:c.*688T>C	ENSP00000508790.1:n.*688T>C
ENST00000686680.1:c.412T>C	ENSP00000508892.1:p.Phe138Leu
ENST00000688195.1:c.355T>C	ENSP00000510115.1:p.Phe119Leu
ENST00000688270.1:c.*48T>C	ENSP00000509823.1:n.*48T>C
ENST00000688618.1:c.*554T>C	ENSP00000509271.1:n.*554T>C
ENST00000689040.1:c.*825T>C	ENSP00000508573.1:n.*825T>C
ENST00000692097.1:c.*478T>C	ENSP00000509668.1:n.*478T>C
ENST00000692689.1:c.379T>C	ENSP00000509732.1:p.Phe127Leu
ENST00000693457.1:c.*514-737T>C	ENSP00000508414.1:n.*514-737T>C
ENST00000693682.1:c.665-737T>C	ENSP00000508670.1:n.665-737T>C
ENST00000258173.11:c.727T>C MANE Select	ENSP00000258173.5:p.Phe243Leu
ENST00000258173.10:c.727T>C	ENSP00000258173.5:p.Phe243Leu
ENST00000460606.1:c.159+1209T>C
ENST00000562410.5:c.*529T>C	ENSP00000454582.1:n.*529T>C
ENST00000564318.1:n.652T>C
ENST00000564576.1:n.537T>C
ENST00000565067.5:c.583T>C	ENSP00000457254.1:p.Phe195Leu
ENST00000568377.5:c.814T>C	ENSP00000476267.1:p.Phe272Leu
ENST00000569294.1:n.471T>C
ENST00000570006.5:c.*107T>C	ENSP00000455520.1:n.*107T>C
NM_001077416.2:c.886T>C	NP_001070884.2:p.Phe296Leu
NM_001077418.2:c.727T>C	NP_001070886.1:p.Phe243Leu
NR_074083.1:n.927T>C
NM_001077418.3:c.727T>C MANE Select	NP_001070886.1:p.Phe243Leu
NR_074083.2:n.893T>C