Canonical Allele Identifier: CA246674736
Gene: MIPEP HGNC NCBI

Linked Data

ClinVar Variation Id: 2222896
ClinVar RCV Id: RCV002678135
dbSNP Id: rs368537909
gnomAD v2: 13-24436440-C-T
gnomAD v3: 13-23862301-C-T
gnomAD v4: 13-23862301-C-T
COSMIC: COSM1257729
MyVariant Identifiers: chr13:g.24436440C>T (hg19) chr13:g.23862301C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23862301C>T , CM000675.2:g.23862301C>T GRCh38
NC_000013.10:g.24436440C>T , CM000675.1:g.24436440C>T GRCh37
NC_000013.9:g.23334440C>T NCBI36
NG_052977.1:g.32148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382172.4:c.1053+1G>A MANE Select ENSP00000371607.3:n.1053+1G>A
ENST00000382172.3:c.1053+1G>A ENSP00000371607.3:n.1053+1G>A
ENST00000494139.1:n.450+1G>A
NM_005932.3:c.1053+1G>A NP_005923.2:n.1053+1G>A
XM_011535097.1:c.867+1G>A XP_011533399.1:n.867+1G>A
XM_011535098.1:c.1053+1G>A XP_011533400.1:n.1053+1G>A
XM_011535097.2:c.867+1G>A XP_011533399.1:n.867+1G>A
XM_011535098.3:c.1053+1G>A XP_011533400.1:n.1053+1G>A
NM_005932.4:c.1053+1G>A MANE Select NP_005923.3:n.1053+1G>A
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