Canonical Allele Identifier: CA387526121

Gene: MIPEP

Linked Data

• dbSNP Id: rs1678085113
• gnomAD v4: 13-23862334-C-T
• MyVariant Identifiers: chr13:g.24436473C>T (hg19) ; chr13:g.23862334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862334C>T , CM000675.2:g.23862334C>T	GRCh38
NC_000013.10:g.24436473C>T , CM000675.1:g.24436473C>T	GRCh37
NC_000013.9:g.23334473C>T	NCBI36
NG_052977.1:g.32115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1021G>A MANE Select	ENSP00000371607.3:p.Gly341Arg
ENST00000382172.3:c.1021G>A	ENSP00000371607.3:p.Gly341Arg
ENST00000494139.1:n.418G>A
NM_005932.3:c.1021G>A	NP_005923.2:p.Gly341Arg
XM_011535097.1:c.835G>A	XP_011533399.1:p.Gly279Arg
XM_011535098.1:c.1021G>A	XP_011533400.1:p.Gly341Arg
XM_011535097.2:c.835G>A	XP_011533399.1:p.Gly279Arg
XM_011535098.3:c.1021G>A	XP_011533400.1:p.Gly341Arg
NM_005932.4:c.1021G>A MANE Select	NP_005923.3:p.Gly341Arg