Canonical Allele Identifier: CA645373274

Gene: MIB1

Linked Data

• ClinVar Variation Id: 432617
• ClinVar RCV Id: RCV000498409
• dbSNP Id: rs1555691689
• MyVariant Identifiers: chr18:g.19371365dup (hg19) ; chr18:g.21791404dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21791404dup , CM000680.2:g.21791404dup	GRCh38
NC_000018.9:g.19371365dup , CM000680.1:g.19371365dup	GRCh37
NC_000018.8:g.17625363dup	NCBI36
NG_033272.2:g.91448dup , LRG_759:g.91448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261537.7:c.939dup MANE Select	ENSP00000261537.6:p.Ala314SerfsTer24
ENST00000261537.6:c.939dup	ENSP00000261537.6:p.Ala314SerfsTer24
ENST00000578646.5:n.916dup
NM_020774.3:c.939dup , LRG_759t1:c.939dup	NP_065825.1:p.Ala314SerfsTer24
XR_935234.1:n.1730dup
XR_935235.1:n.1730dup
XM_017025873.1:c.423dup	XP_016881362.1:p.Ala142SerfsTer24
XM_017025874.1:c.939dup	XP_016881363.1:p.Ala314SerfsTer24
XM_017025875.1:c.939dup	XP_016881364.1:p.Ala314SerfsTer24
NM_020774.4:c.939dup MANE Select	NP_065825.1:p.Ala314SerfsTer24