Canonical Allele Identifier: CA10145364
Gene: MMP11 HGNC NCBI
COSMIC:
COSM1751756 (not active)
MyVariant.info:
GRCh38 chr22:g.23779191C>T
GRCh37 chr22:g.24121378C>T
Revel Score:
ENST00000215743 (MANE Select) 0.062
gnomAD v2:
22:24121378 C / T
gnomAD v3:
22:23779191 C / T
gnomAD v4:
chr22-23779191-C-T
Joint Max Group AF 0.91809755 (NFE)
Genomes Max Group AF 0.91118669 (NFE)
Exomes Max Group AF 0.91819684 (NFE)
dbSNP:
738792
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23779191C>T , CM000684.2:g.23779191C>T GRCh38
NC_000022.10:g.24121378C>T , CM000684.1:g.24121378C>T GRCh37
NC_000022.9:g.22451378C>T NCBI36
NG_029443.1:g.11343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215743.8:c.113C>T MANE Select ENSP00000215743.3:p.Ala38Val
ENST00000215743.7:c.113C>T ENSP00000215743.3:p.Ala38Val
ENST00000428253.1:c.113C>T ENSP00000409860.1:p.Ala38Val
ENST00000437086.5:c.113C>T ENSP00000408070.1:p.Ala38Val
ENST00000460352.1:n.173C>T
ENST00000465385.5:n.755C>T
ENST00000465730.1:n.138C>T
ENST00000477567.5:n.277C>T
ENST00000489582.5:n.139C>T
NM_005940.3:c.113C>T NP_005931.2:p.Ala38Val
NM_005940.4:c.113C>T NP_005931.2:p.Ala38Val
NR_133013.1:n.165C>T
NM_005940.5:c.113C>T MANE Select NP_005931.2:p.Ala38Val
NR_133013.2:n.135C>T
Search 100 bp 5'
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