Canonical Allele Identifier: CA387526056

Gene: MIPEP

Linked Data

• gnomAD v4: 13-23862319-G-C
• MyVariant Identifiers: chr13:g.24436458G>C (hg19) ; chr13:g.23862319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862319G>C , CM000675.2:g.23862319G>C	GRCh38
NC_000013.10:g.24436458G>C , CM000675.1:g.24436458G>C	GRCh37
NC_000013.9:g.23334458G>C	NCBI36
NG_052977.1:g.32130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1036C>G MANE Select	ENSP00000371607.3:p.Leu346Val
ENST00000382172.3:c.1036C>G	ENSP00000371607.3:p.Leu346Val
ENST00000494139.1:n.433C>G
NM_005932.3:c.1036C>G	NP_005923.2:p.Leu346Val
XM_011535097.1:c.850C>G	XP_011533399.1:p.Leu284Val
XM_011535098.1:c.1036C>G	XP_011533400.1:p.Leu346Val
XM_011535097.2:c.850C>G	XP_011533399.1:p.Leu284Val
XM_011535098.3:c.1036C>G	XP_011533400.1:p.Leu346Val
NM_005932.4:c.1036C>G MANE Select	NP_005923.3:p.Leu346Val