Canonical Allele Identifier: CA278813

Gene: MIP

Linked Data

• ClinVar Variation Id: 217342
• ClinVar RCV Id: RCV000203320 ; RCV001390816 ; RCV002512064
• dbSNP Id: rs864309693
• gnomAD v4: 12-56454517-G-A
• COSMIC: COSM941691
• MyVariant Identifiers: chr12:g.56848301G>A (hg19) ; chr12:g.56454517G>A (hg38)
• PubMed: PMID:26694549

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56454517G>A , CM000674.2:g.56454517G>A	GRCh38
NC_000012.11:g.56848301G>A , CM000674.1:g.56848301G>A	GRCh37
NC_000012.10:g.55134568G>A	NCBI36
NG_021397.1:g.5135C>T
NG_021397.2:g.19650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.183-762C>T	ENSP00000497190.1:n.183-762C>T
ENST00000648442.1:n.494-762C>T
ENST00000650166.1:n.250-762C>T
ENST00000652304.1:c.97C>T MANE Select	ENSP00000498622.1:p.Arg33Cys
ENST00000257979.4:c.97C>T	ENSP00000257979.4:p.Arg33Cys
ENST00000555551.1:n.317-762C>T
NM_012064.3:c.97C>T	NP_036196.1:p.Arg33Cys
XM_011538354.1:c.76-762C>T	XP_011536656.1:n.76-762C>T
NM_012064.4:c.97C>T MANE Select	NP_036196.1:p.Arg33Cys