Canonical Allele Identifier: CA396806682

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545396G>A , CM000678.2:g.75545396G>A	GRCh38
NC_000016.9:g.75579294G>A , CM000678.1:g.75579294G>A	GRCh37
NC_000016.8:g.74136795G>A	NCBI36
NG_033109.1:g.15891C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.538C>T MANE Select	NP_001070886.1:p.Gln180Ter
ENST00000258173.11:c.538C>T MANE Select	ENSP00000258173.5:p.Gln180Ter
NM_001077416.2:c.697C>T	NP_001070884.2:p.Gln233Ter
NM_001077418.2:c.538C>T	NP_001070886.1:p.Gln180Ter
NR_074083.1:n.738C>T
NR_074083.2:n.704C>T
ENST00000258173.10:c.538C>T	ENSP00000258173.5:p.Gln180Ter
ENST00000460606.1:c.33C>T
ENST00000562410.5:c.*340C>T	ENSP00000454582.1:n.*340C>T
ENST00000564576.1:n.346-2713C>T
ENST00000565067.5:c.438+430C>T	ENSP00000457254.1:n.438+430C>T
ENST00000568377.5:c.625C>T	ENSP00000476267.1:p.Gln209Ter
ENST00000569294.1:n.282C>T
ENST00000570006.5:c.500C>T	ENSP00000455520.1:p.Ala167Val
ENST00000685935.1:c.*340C>T	ENSP00000510128.1:n.*340C>T
ENST00000686547.1:c.*499C>T	ENSP00000508790.1:n.*499C>T
ENST00000686680.1:c.223C>T	ENSP00000508892.1:p.Gln75Ter
ENST00000688195.1:c.166C>T	ENSP00000510115.1:p.Gln56Ter
ENST00000688270.1:c.538C>T	ENSP00000509823.1:p.Gln180Ter
ENST00000688618.1:c.*340C>T	ENSP00000509271.1:n.*340C>T
ENST00000689040.1:c.*340C>T	ENSP00000508573.1:n.*340C>T
ENST00000692097.1:c.*289C>T	ENSP00000509668.1:n.*289C>T
ENST00000692689.1:c.190C>T	ENSP00000509732.1:p.Gln64Ter
ENST00000693457.1:c.*340C>T	ENSP00000508414.1:n.*340C>T
ENST00000693682.1:c.538C>T	ENSP00000508670.1:p.Gln180Ter