Canonical Allele Identifier: CA482935763

Gene: MIPEP

Linked Data

• gnomAD v4: 13-23862317-C-A
• MyVariant Identifiers: chr13:g.24436456C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862317C>A , CM000675.2:g.23862317C>A	GRCh38
NC_000013.10:g.24436456C>A , CM000675.1:g.24436456C>A	GRCh37
NC_000013.9:g.23334456C>A	NCBI36
NG_052977.1:g.32132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1038G>T MANE Select	ENSP00000371607.3:p.Leu346=
ENST00000382172.3:c.1038G>T	ENSP00000371607.3:p.Leu346=
ENST00000494139.1:n.435G>T
NM_005932.3:c.1038G>T	NP_005923.2:p.Leu346=
XM_011535097.1:c.852G>T	XP_011533399.1:p.Leu284=
XM_011535098.1:c.1038G>T	XP_011533400.1:p.Leu346=
XM_011535097.2:c.852G>T	XP_011533399.1:p.Leu284=
XM_011535098.3:c.1038G>T	XP_011533400.1:p.Leu346=
NM_005932.4:c.1038G>T MANE Select	NP_005923.3:p.Leu346=