Canonical Allele Identifier: CA117531
Gene: MAPK8IP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5419
ClinVar RCV Id: RCV000005752
dbSNP Id: rs119489103

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45898159G>A , CM000673.2:g.45898159G>A GRCh38
NC_000011.9:g.45919710G>A , CM000673.1:g.45919710G>A GRCh37
NC_000011.8:g.45876286G>A NCBI36
NG_012153.1:g.17509G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000241014.6:c.176G>A MANE Select ENSP00000241014.2:p.Ser59Asn
ENST00000395629.2:c.146G>A ENSP00000378991.2:p.Ser49Asn
NM_005456.3:c.176G>A NP_005447.1:p.Ser59Asn
XM_005253226.2:c.146G>A XP_005253283.1:p.Ser49Asn
NM_005456.4:c.176G>A MANE Select NP_005447.1:p.Ser59Asn