Canonical Allele Identifier: CA120518

Gene: MXI1

Linked Data

• ClinVar Variation Id: 9535
• ClinVar RCV Id: RCV000010143
• dbSNP Id: rs387906417
• MyVariant Identifiers: chr10:g.112039054T>C (hg19) ; chr10:g.110279296T>C (hg38)
• PubMed: PMID:7773287

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110279296T>C , CM000672.2:g.110279296T>C	GRCh38
NC_000010.10:g.112039054T>C , CM000672.1:g.112039054T>C	GRCh37
NC_000010.9:g.112029044T>C	NCBI36
NG_012103.1:g.76692T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000485566.2:n.479+2T>C
ENST00000650644.1:c.243+2T>C	ENSP00000498900.1:n.243+2T>C
ENST00000650696.1:c.243+2T>C	ENSP00000499158.1:n.243+2T>C
ENST00000650752.1:c.*240+2T>C	ENSP00000499134.1:n.*240+2T>C
ENST00000650810.1:c.243+2T>C	ENSP00000498390.1:n.243+2T>C
ENST00000650843.1:c.243+2T>C	ENSP00000498547.1:n.243+2T>C
ENST00000650900.1:c.243+2T>C	ENSP00000499209.1:n.243+2T>C
ENST00000650952.1:c.243+2T>C	ENSP00000499161.1:n.243+2T>C
ENST00000651004.1:c.243+2T>C	ENSP00000498396.1:n.243+2T>C
ENST00000651109.1:c.*240+2T>C	ENSP00000498214.1:n.*240+2T>C
ENST00000651112.1:c.144+2T>C	ENSP00000498951.1:n.144+2T>C
ENST00000651167.1:c.243+2T>C	ENSP00000498764.1:n.243+2T>C
ENST00000651225.1:c.*340+2T>C	ENSP00000498220.1:n.*340+2T>C
ENST00000651318.1:c.*240+2T>C	ENSP00000498911.1:n.*240+2T>C
ENST00000651467.1:c.243+2T>C	ENSP00000499128.1:n.243+2T>C
ENST00000651495.1:c.243+2T>C	ENSP00000498536.1:n.243+2T>C
ENST00000651516.1:c.243+2T>C	ENSP00000498873.1:n.243+2T>C
ENST00000651557.1:c.*127+2T>C	ENSP00000498474.1:n.*127+2T>C
ENST00000651613.1:c.243+2T>C	ENSP00000498554.1:n.243+2T>C
ENST00000651811.1:c.243+2T>C	ENSP00000498472.1:n.243+2T>C
ENST00000651848.1:c.243+2T>C	ENSP00000498238.1:n.243+2T>C
ENST00000651866.1:c.243+2T>C	ENSP00000498306.1:n.243+2T>C
ENST00000652028.1:c.243+2T>C	ENSP00000498928.1:n.243+2T>C
ENST00000652243.1:c.*240+2T>C	ENSP00000498409.1:n.*240+2T>C
ENST00000652323.1:c.*115+2T>C	ENSP00000498637.1:n.*115+2T>C
ENST00000652463.1:c.243+2T>C	ENSP00000499087.1:n.243+2T>C
ENST00000652506.1:c.243+2T>C	ENSP00000498573.1:n.243+2T>C
ENST00000652604.1:c.213+2T>C	ENSP00000498971.1:n.213+2T>C
ENST00000652649.1:c.*304+2T>C	ENSP00000499130.1:n.*304+2T>C
ENST00000239007.11:c.351+2T>C	ENSP00000239007.7:n.351+2T>C
ENST00000332674.9:c.552+2T>C MANE Select	ENSP00000331152.5:n.552+2T>C
ENST00000361248.8:c.213+2T>C	ENSP00000354606.4:n.213+2T>C
ENST00000369612.1:c.243+2T>C	ENSP00000358625.1:n.243+2T>C
ENST00000393134.5:c.321+2T>C	ENSP00000376842.1:n.321+2T>C
ENST00000442296.5:c.243+2T>C	ENSP00000407711.1:n.243+2T>C
ENST00000453116.5:c.522+2T>C	ENSP00000398981.1:n.522+2T>C
ENST00000460667.5:n.543+2T>C
ENST00000484030.5:n.375+2T>C
ENST00000485566.1:n.900+2T>C
NM_001008541.1:c.213+2T>C	NP_001008541.1:n.213+2T>C
NM_005962.4:c.351+2T>C	NP_005953.4:n.351+2T>C
NM_130439.3:c.552+2T>C MANE Select	NP_569157.2:n.552+2T>C
NM_005962.5:c.351+2T>C	NP_005953.4:n.351+2T>C