Canonical Allele Identifier: CA387526018
Gene: MIPEP HGNC NCBI

Linked Data

dbSNP Id: rs1231477625
gnomAD v2: 13-24436448-T-C
gnomAD v3: 13-23862309-T-C
gnomAD v4: 13-23862309-T-C
MyVariant Identifiers: chr13:g.24436448T>C (hg19) chr13:g.23862309T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23862309T>C , CM000675.2:g.23862309T>C GRCh38
NC_000013.10:g.24436448T>C , CM000675.1:g.24436448T>C GRCh37
NC_000013.9:g.23334448T>C NCBI36
NG_052977.1:g.32140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382172.4:c.1046A>G MANE Select ENSP00000371607.3:p.Gln349Arg
ENST00000382172.3:c.1046A>G ENSP00000371607.3:p.Gln349Arg
ENST00000494139.1:n.443A>G
NM_005932.3:c.1046A>G NP_005923.2:p.Gln349Arg
XM_011535097.1:c.860A>G XP_011533399.1:p.Gln287Arg
XM_011535098.1:c.1046A>G XP_011533400.1:p.Gln349Arg
XM_011535097.2:c.860A>G XP_011533399.1:p.Gln287Arg
XM_011535098.3:c.1046A>G XP_011533400.1:p.Gln349Arg
NM_005932.4:c.1046A>G MANE Select NP_005923.3:p.Gln349Arg
Search 100 bp 5'
Search 100 bp 3'