Canonical Allele Identifier: CA396807050

Gene: TMEM231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75545893A>G , CM000678.2:g.75545893A>G	GRCh38
NC_000016.9:g.75579791A>G , CM000678.1:g.75579791A>G	GRCh37
NC_000016.8:g.74137292A>G	NCBI36
NG_033109.1:g.15394T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001077418.3:c.371T>C MANE Select	NP_001070886.1:p.Leu124Pro
ENST00000258173.11:c.371T>C MANE Select	ENSP00000258173.5:p.Leu124Pro
NM_001077416.2:c.530T>C	NP_001070884.2:p.Leu177Pro
NM_001077418.2:c.371T>C	NP_001070886.1:p.Leu124Pro
NR_074083.1:n.571T>C
NR_074083.2:n.537T>C
ENST00000258173.10:c.371T>C	ENSP00000258173.5:p.Leu124Pro
ENST00000562410.5:c.*173T>C	ENSP00000454582.1:n.*173T>C
ENST00000564576.1:n.346-3210T>C
ENST00000565067.5:c.371T>C	ENSP00000457254.1:p.Leu124Pro
ENST00000568377.5:c.458T>C	ENSP00000476267.1:p.Leu153Pro
ENST00000569294.1:n.115T>C
ENST00000570006.5:c.371T>C	ENSP00000455520.1:p.Leu124Pro
ENST00000685935.1:c.*173T>C	ENSP00000510128.1:n.*173T>C
ENST00000686547.1:c.*332T>C	ENSP00000508790.1:n.*332T>C
ENST00000686680.1:c.94T>C	ENSP00000508892.1:p.Phe32Leu
ENST00000688195.1:c.37T>C	ENSP00000510115.1:p.Phe13Leu
ENST00000688270.1:c.371T>C	ENSP00000509823.1:p.Leu124Pro
ENST00000688618.1:c.*173T>C	ENSP00000509271.1:n.*173T>C
ENST00000689040.1:c.*173T>C	ENSP00000508573.1:n.*173T>C
ENST00000692097.1:c.*122T>C	ENSP00000509668.1:n.*122T>C
ENST00000692215.1:n.537T>C
ENST00000692689.1:c.23T>C	ENSP00000509732.1:p.Leu8Pro
ENST00000693457.1:c.*173T>C	ENSP00000508414.1:n.*173T>C
ENST00000693682.1:c.371T>C	ENSP00000508670.1:p.Leu124Pro