Canonical Allele Identifier: CA387526026

Gene: MIPEP

Linked Data

• gnomAD v4: 13-23862312-G-A
• MyVariant Identifiers: chr13:g.24436451G>A (hg19) ; chr13:g.23862312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862312G>A , CM000675.2:g.23862312G>A	GRCh38
NC_000013.10:g.24436451G>A , CM000675.1:g.24436451G>A	GRCh37
NC_000013.9:g.23334451G>A	NCBI36
NG_052977.1:g.32137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1043C>T MANE Select	ENSP00000371607.3:p.Pro348Leu
ENST00000382172.3:c.1043C>T	ENSP00000371607.3:p.Pro348Leu
ENST00000494139.1:n.440C>T
NM_005932.3:c.1043C>T	NP_005923.2:p.Pro348Leu
XM_011535097.1:c.857C>T	XP_011533399.1:p.Pro286Leu
XM_011535098.1:c.1043C>T	XP_011533400.1:p.Pro348Leu
XM_011535097.2:c.857C>T	XP_011533399.1:p.Pro286Leu
XM_011535098.3:c.1043C>T	XP_011533400.1:p.Pro348Leu
NM_005932.4:c.1043C>T MANE Select	NP_005923.3:p.Pro348Leu