Canonical Allele Identifier: CA6249990
Gene: MMP10 HGNC NCBI
WTAPP1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.102776665A>G
GRCh37 chr11:g.102647396A>G
Revel Score:
ENST00000279441 (MANE Select) 0.115
gnomAD v2:
11:102647396 A / G
gnomAD v3:
11:102776665 A / G
gnomAD v4:
chr11-102776665-A-G
Joint Max Group AF 0.0015776 (NFE)
Genomes Max Group AF 0.00119617 (NFE)
Exomes Max Group AF 0.00158875 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102776665A>G , CM000673.2:g.102776665A>G GRCh38
NC_000011.9:g.102647396A>G , CM000673.1:g.102647396A>G GRCh37
NC_000011.8:g.102152606A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000279441.9:c.734T>C (MMP10) MANE Select ENSP00000279441.4:p.Leu245Pro
ENST00000279441.8:c.734T>C (MMP10) ENSP00000279441.4:p.Leu245Pro
ENST00000371455.7:n.325-21359A>G (WTAPP1)
NM_002425.2:c.734T>C (MMP10) NP_002416.1:p.Leu245Pro
NM_002425.3:c.734T>C (MMP10) MANE Select NP_002416.1:p.Leu245Pro
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