Canonical Allele Identifier: CA8908145

Gene: MIB1

Linked Data

• ClinVar Variation Id: 510701
• ClinVar RCV Id: RCV000606746
• dbSNP Id: rs747807993
• ExAC: 18:19359657 T / C
• gnomAD v2: 18-19359657-T-C
• gnomAD v3: 18-21779696-T-C
• gnomAD v4: 18-21779696-T-C
• MyVariant Identifiers: chr18:g.19359657T>C (hg19) ; chr18:g.21779696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21779696T>C , CM000680.2:g.21779696T>C	GRCh38
NC_000018.9:g.19359657T>C , CM000680.1:g.19359657T>C	GRCh37
NC_000018.8:g.17613655T>C	NCBI36
NG_033272.2:g.79740T>C , LRG_759:g.79740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261537.7:c.908+11T>C MANE Select	ENSP00000261537.6:n.908+11T>C
ENST00000261537.6:c.908+11T>C	ENSP00000261537.6:n.908+11T>C
ENST00000578646.5:n.846+11T>C
NM_020774.3:c.908+11T>C , LRG_759t1:c.908+11T>C	NP_065825.1:n.908+11T>C
XR_935234.1:n.1699+11T>C
XR_935235.1:n.1699+11T>C
XM_017025873.1:c.392+11T>C	XP_016881362.1:n.392+11T>C
XM_017025874.1:c.908+11T>C	XP_016881363.1:n.908+11T>C
XM_017025875.1:c.908+11T>C	XP_016881364.1:n.908+11T>C
NM_020774.4:c.908+11T>C MANE Select	NP_065825.1:n.908+11T>C