Canonical Allele Identifier: CA246674676

Gene: MIPEP

Linked Data

• dbSNP Id: rs188095093
• gnomAD v2: 13-24436384-A-G
• gnomAD v3: 13-23862245-A-G
• gnomAD v4: 13-23862245-A-G
• MyVariant Identifiers: chr13:g.24436384A>G (hg19) ; chr13:g.23862245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862245A>G , CM000675.2:g.23862245A>G	GRCh38
NC_000013.10:g.24436384A>G , CM000675.1:g.24436384A>G	GRCh37
NC_000013.9:g.23334384A>G	NCBI36
NG_052977.1:g.32204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1053+57T>C MANE Select	ENSP00000371607.3:n.1053+57T>C
ENST00000382172.3:c.1053+57T>C	ENSP00000371607.3:n.1053+57T>C
ENST00000494139.1:n.450+57T>C
NM_005932.3:c.1053+57T>C	NP_005923.2:n.1053+57T>C
XM_011535097.1:c.867+57T>C	XP_011533399.1:n.867+57T>C
XM_011535098.1:c.1053+57T>C	XP_011533400.1:n.1053+57T>C
XM_011535097.2:c.867+57T>C	XP_011533399.1:n.867+57T>C
XM_011535098.3:c.1053+57T>C	XP_011533400.1:n.1053+57T>C
NM_005932.4:c.1053+57T>C MANE Select	NP_005923.3:n.1053+57T>C