Canonical Allele Identifier: CA246674763

Gene: MIPEP

Linked Data

• dbSNP Id: rs770388174
• gnomAD v2: 13-24436457-A-G
• gnomAD v4: 13-23862318-A-G
• MyVariant Identifiers: chr13:g.24436457A>G (hg19) ; chr13:g.23862318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862318A>G , CM000675.2:g.23862318A>G	GRCh38
NC_000013.10:g.24436457A>G , CM000675.1:g.24436457A>G	GRCh37
NC_000013.9:g.23334457A>G	NCBI36
NG_052977.1:g.32131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1037T>C MANE Select	ENSP00000371607.3:p.Leu346Pro
ENST00000382172.3:c.1037T>C	ENSP00000371607.3:p.Leu346Pro
ENST00000494139.1:n.434T>C
NM_005932.3:c.1037T>C	NP_005923.2:p.Leu346Pro
XM_011535097.1:c.851T>C	XP_011533399.1:p.Leu284Pro
XM_011535098.1:c.1037T>C	XP_011533400.1:p.Leu346Pro
XM_011535097.2:c.851T>C	XP_011533399.1:p.Leu284Pro
XM_011535098.3:c.1037T>C	XP_011533400.1:p.Leu346Pro
NM_005932.4:c.1037T>C MANE Select	NP_005923.3:p.Leu346Pro