Canonical Allele Identifier: CA8176256

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 515386
• ClinVar RCV Id: RCV000604348 ; RCV002064304
• dbSNP Id: rs760694007
• ExAC: 16:75589771 G / A
• gnomAD v2: 16-75589771-G-A
• gnomAD v3: 16-75555873-G-A
• gnomAD v4: 16-75555873-G-A
• MyVariant Identifiers: chr16:g.75589771G>A (hg19) ; chr16:g.75555873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75555873G>A , CM000678.2:g.75555873G>A	GRCh38
NC_000016.9:g.75589771G>A , CM000678.1:g.75589771G>A	GRCh37
NC_000016.8:g.74147272G>A	NCBI36
NG_033109.1:g.5414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.240C>T	ENSP00000510128.1:p.Phe80=
ENST00000686547.1:c.240C>T	ENSP00000508790.1:p.Phe80=
ENST00000688270.1:c.240C>T	ENSP00000509823.1:p.Phe80=
ENST00000688618.1:c.240C>T	ENSP00000509271.1:p.Phe80=
ENST00000689040.1:c.240C>T	ENSP00000508573.1:p.Phe80=
ENST00000692097.1:c.240C>T	ENSP00000509668.1:p.Phe80=
ENST00000692215.1:n.283C>T
ENST00000693457.1:c.240C>T	ENSP00000508414.1:p.Phe80=
ENST00000693682.1:c.240C>T	ENSP00000508670.1:p.Phe80=
ENST00000258173.11:c.240C>T MANE Select	ENSP00000258173.5:p.Phe80=
ENST00000258173.10:c.240C>T	ENSP00000258173.5:p.Phe80=
ENST00000561809.1:n.390C>T
ENST00000562410.5:c.240C>T	ENSP00000454582.1:p.Phe80=
ENST00000564576.1:n.276C>T
ENST00000565067.5:c.240C>T	ENSP00000457254.1:p.Phe80=
ENST00000568377.5:c.327C>T	ENSP00000476267.1:p.Phe109=
ENST00000570006.5:c.240C>T	ENSP00000455520.1:p.Phe80=
ENST00000615437.1:c.53C>T
NM_001077416.2:c.399C>T	NP_001070884.2:p.Phe133=
NM_001077418.2:c.240C>T	NP_001070886.1:p.Phe80=
NR_074083.1:n.317C>T
NM_001077418.3:c.240C>T MANE Select	NP_001070886.1:p.Phe80=
NR_074083.2:n.283C>T