Canonical Allele Identifier: CA246674808
Gene: MIPEP HGNC NCBI

Linked Data

dbSNP Id: rs1056926438
gnomAD v2: 13-24436466-T-G
gnomAD v3: 13-23862327-T-G
gnomAD v4: 13-23862327-T-G
MyVariant Identifiers: chr13:g.24436466T>G (hg19) chr13:g.23862327T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23862327T>G , CM000675.2:g.23862327T>G GRCh38
NC_000013.10:g.24436466T>G , CM000675.1:g.24436466T>G GRCh37
NC_000013.9:g.23334466T>G NCBI36
NG_052977.1:g.32122A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382172.4:c.1028A>C MANE Select ENSP00000371607.3:p.Lys343Thr
ENST00000382172.3:c.1028A>C ENSP00000371607.3:p.Lys343Thr
ENST00000494139.1:n.425A>C
NM_005932.3:c.1028A>C NP_005923.2:p.Lys343Thr
XM_011535097.1:c.842A>C XP_011533399.1:p.Lys281Thr
XM_011535098.1:c.1028A>C XP_011533400.1:p.Lys343Thr
XM_011535097.2:c.842A>C XP_011533399.1:p.Lys281Thr
XM_011535098.3:c.1028A>C XP_011533400.1:p.Lys343Thr
NM_005932.4:c.1028A>C MANE Select NP_005923.3:p.Lys343Thr
Search 100 bp 5'
Search 100 bp 3'