Canonical Allele Identifier: CA10275321
Gene: MPPED1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.43505576C>T
GRCh37 chr22:g.43901456C>T
Revel Score:
ENST00000417669 0.243
ENST00000443721 (MANE Select) 0.243
ENST00000545165 0.243
ENST00000414469 0.243
ENST00000439548 0.243
ENST00000542779 0.243
ENST00000538182 0.243
gnomAD v2:
22:43901456 C / T
gnomAD v3:
22:43505576 C / T
gnomAD v4:
chr22-43505576-C-T
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV004091199
ClinVar Variation:
2226570
dbSNP:
776867879
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43505576C>T , CM000684.2:g.43505576C>T GRCh38
NC_000022.10:g.43901456C>T , CM000684.1:g.43901456C>T GRCh37
NC_000022.9:g.42232785C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000443721.2:c.941C>T MANE Select ENSP00000400686.1:p.Pro314Leu
ENST00000417669.6:c.941C>T ENSP00000388137.1:p.Pro314Leu
ENST00000443721.1:c.941C>T ENSP00000400686.1:p.Pro314Leu
NM_001044370.1:c.941C>T NP_001037835.1:p.Pro314Leu
XM_011530367.1:c.941C>T XP_011528669.1:p.Pro314Leu
NM_001362786.1:c.941C>T NP_001349715.1:p.Pro314Leu
NM_001044370.2:c.941C>T MANE Select NP_001037835.1:p.Pro314Leu
NM_001362786.2:c.941C>T NP_001349715.1:p.Pro314Leu
Search 100 bp 5'
Search 100 bp 3'