Canonical Allele Identifier: CA396804320

Gene: TMEM231

Linked Data

• MyVariant Identifiers: chr16:g.75575289A>C (hg19) ; chr16:g.75541391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75541391A>C , CM000678.2:g.75541391A>C	GRCh38
NC_000016.9:g.75575289A>C , CM000678.1:g.75575289A>C	GRCh37
NC_000016.8:g.74132790A>C	NCBI36
NG_033109.1:g.19896T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*513+1164T>G	ENSP00000510128.1:n.*513+1164T>G
ENST00000686547.1:c.*690T>G	ENSP00000508790.1:n.*690T>G
ENST00000686680.1:c.414T>G	ENSP00000508892.1:p.Phe138Leu
ENST00000688195.1:c.357T>G	ENSP00000510115.1:p.Phe119Leu
ENST00000688270.1:c.*50T>G	ENSP00000509823.1:n.*50T>G
ENST00000688618.1:c.*556T>G	ENSP00000509271.1:n.*556T>G
ENST00000689040.1:c.*827T>G	ENSP00000508573.1:n.*827T>G
ENST00000692097.1:c.*480T>G	ENSP00000509668.1:n.*480T>G
ENST00000692689.1:c.381T>G	ENSP00000509732.1:p.Phe127Leu
ENST00000693457.1:c.*514-735T>G	ENSP00000508414.1:n.*514-735T>G
ENST00000693682.1:c.665-735T>G	ENSP00000508670.1:n.665-735T>G
ENST00000258173.11:c.729T>G MANE Select	ENSP00000258173.5:p.Phe243Leu
ENST00000258173.10:c.729T>G	ENSP00000258173.5:p.Phe243Leu
ENST00000460606.1:c.159+1211T>G
ENST00000562410.5:c.*531T>G	ENSP00000454582.1:n.*531T>G
ENST00000564318.1:n.654T>G
ENST00000564576.1:n.539T>G
ENST00000565067.5:c.585T>G	ENSP00000457254.1:p.Phe195Leu
ENST00000568377.5:c.816T>G	ENSP00000476267.1:p.Phe272Leu
ENST00000569294.1:n.473T>G
ENST00000570006.5:c.*109T>G	ENSP00000455520.1:n.*109T>G
NM_001077416.2:c.888T>G	NP_001070884.2:p.Phe296Leu
NM_001077418.2:c.729T>G	NP_001070886.1:p.Phe243Leu
NR_074083.1:n.929T>G
NM_001077418.3:c.729T>G MANE Select	NP_001070886.1:p.Phe243Leu
NR_074083.2:n.895T>G