Canonical Allele Identifier: CA496578170

Gene: TMEM231

Linked Data

• ClinVar Variation Id: 3026875
• ClinVar RCV Id: RCV003887268
• MyVariant Identifiers: chr16:g.75573934T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540036T>G , CM000678.2:g.75540036T>G	GRCh38
NC_000016.9:g.75573934T>G , CM000678.1:g.75573934T>G	GRCh37
NC_000016.8:g.74131435T>G	NCBI36
NG_029853.1:g.135A>C
NG_033109.1:g.21251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685935.1:c.*543A>C	ENSP00000510128.1:n.*543A>C
ENST00000686680.1:c.594A>C	ENSP00000508892.1:p.Thr198=
ENST00000688195.1:c.537A>C	ENSP00000510115.1:p.Thr179=
ENST00000688270.1:c.*230A>C	ENSP00000509823.1:n.*230A>C
ENST00000688618.1:c.*736A>C	ENSP00000509271.1:n.*736A>C
ENST00000689040.1:c.*1016A>C	ENSP00000508573.1:n.*1016A>C
ENST00000692097.1:c.*660A>C	ENSP00000509668.1:n.*660A>C
ENST00000692689.1:c.561A>C	ENSP00000509732.1:p.Thr187=
ENST00000693457.1:c.*1134A>C	ENSP00000508414.1:n.*1134A>C
ENST00000693682.1:c.*553A>C	ENSP00000508670.1:n.*553A>C
ENST00000258173.11:c.909A>C MANE Select	ENSP00000258173.5:p.Thr303=
ENST00000258173.10:c.909A>C	ENSP00000258173.5:p.Thr303=
ENST00000460606.1:c.159+2566A>C
ENST00000562410.5:c.*711A>C	ENSP00000454582.1:n.*711A>C
ENST00000564318.1:n.834A>C
ENST00000565067.5:c.765A>C	ENSP00000457254.1:p.Thr255=
ENST00000568377.5:c.996A>C	ENSP00000476267.1:p.Thr332=
ENST00000570006.5:c.*289A>C	ENSP00000455520.1:n.*289A>C
NM_001077416.2:c.1068A>C	NP_001070884.2:p.Thr356=
NM_001077418.2:c.909A>C	NP_001070886.1:p.Thr303=
NR_074083.1:n.1109A>C
NM_001077418.3:c.909A>C MANE Select	NP_001070886.1:p.Thr303=
NR_074083.2:n.1075A>C