Canonical Allele Identifier: CA496578172
Gene: TMEM231 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.75573937C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75540039C>G , CM000678.2:g.75540039C>G GRCh38
NC_000016.9:g.75573937C>G , CM000678.1:g.75573937C>G GRCh37
NC_000016.8:g.74131438C>G NCBI36
NG_029853.1:g.132G>C
NG_033109.1:g.21248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685935.1:c.*540G>C ENSP00000510128.1:n.*540G>C
ENST00000686680.1:c.591G>C ENSP00000508892.1:p.Val197=
ENST00000688195.1:c.534G>C ENSP00000510115.1:p.Val178=
ENST00000688270.1:c.*227G>C ENSP00000509823.1:n.*227G>C
ENST00000688618.1:c.*733G>C ENSP00000509271.1:n.*733G>C
ENST00000689040.1:c.*1013G>C ENSP00000508573.1:n.*1013G>C
ENST00000692097.1:c.*657G>C ENSP00000509668.1:n.*657G>C
ENST00000692689.1:c.558G>C ENSP00000509732.1:p.Val186=
ENST00000693457.1:c.*1131G>C ENSP00000508414.1:n.*1131G>C
ENST00000693682.1:c.*550G>C ENSP00000508670.1:n.*550G>C
ENST00000258173.11:c.906G>C MANE Select ENSP00000258173.5:p.Val302=
ENST00000258173.10:c.906G>C ENSP00000258173.5:p.Val302=
ENST00000460606.1:c.159+2563G>C
ENST00000562410.5:c.*708G>C ENSP00000454582.1:n.*708G>C
ENST00000564318.1:n.831G>C
ENST00000565067.5:c.762G>C ENSP00000457254.1:p.Val254=
ENST00000568377.5:c.993G>C ENSP00000476267.1:p.Val331=
ENST00000570006.5:c.*286G>C ENSP00000455520.1:n.*286G>C
NM_001077416.2:c.1065G>C NP_001070884.2:p.Val355=
NM_001077418.2:c.906G>C NP_001070886.1:p.Val302=
NR_074083.1:n.1106G>C
NM_001077418.3:c.906G>C MANE Select NP_001070886.1:p.Val302=
NR_074083.2:n.1072G>C