Canonical Allele Identifier: CA396802284

Gene: TMEM231

Linked Data

• gnomAD v4: 16-75540035-C-G
• MyVariant Identifiers: chr16:g.75573933C>G (hg19) ; chr16:g.75540035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75540035C>G , CM000678.2:g.75540035C>G	GRCh38
NC_000016.9:g.75573933C>G , CM000678.1:g.75573933C>G	GRCh37
NC_000016.8:g.74131434C>G	NCBI36
NG_029853.1:g.136G>C
NG_033109.1:g.21252G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000685935.1:c.*544G>C	ENSP00000510128.1:n.*544G>C
ENST00000686680.1:c.595G>C	ENSP00000508892.1:p.Val199Leu
ENST00000688195.1:c.538G>C	ENSP00000510115.1:p.Val180Leu
ENST00000688270.1:c.*231G>C	ENSP00000509823.1:n.*231G>C
ENST00000688618.1:c.*737G>C	ENSP00000509271.1:n.*737G>C
ENST00000689040.1:c.*1017G>C	ENSP00000508573.1:n.*1017G>C
ENST00000692097.1:c.*661G>C	ENSP00000509668.1:n.*661G>C
ENST00000692689.1:c.562G>C	ENSP00000509732.1:p.Val188Leu
ENST00000693457.1:c.*1135G>C	ENSP00000508414.1:n.*1135G>C
ENST00000693682.1:c.*554G>C	ENSP00000508670.1:n.*554G>C
ENST00000258173.11:c.910G>C MANE Select	ENSP00000258173.5:p.Val304Leu
ENST00000258173.10:c.910G>C	ENSP00000258173.5:p.Val304Leu
ENST00000460606.1:c.159+2567G>C
ENST00000562410.5:c.*712G>C	ENSP00000454582.1:n.*712G>C
ENST00000564318.1:n.835G>C
ENST00000565067.5:c.766G>C	ENSP00000457254.1:p.Val256Leu
ENST00000568377.5:c.997G>C	ENSP00000476267.1:p.Val333Leu
ENST00000570006.5:c.*290G>C	ENSP00000455520.1:n.*290G>C
NM_001077416.2:c.1069G>C	NP_001070884.2:p.Val357Leu
NM_001077418.2:c.910G>C	NP_001070886.1:p.Val304Leu
NR_074083.1:n.1110G>C
NM_001077418.3:c.910G>C MANE Select	NP_001070886.1:p.Val304Leu
NR_074083.2:n.1076G>C