Canonical Allele Identifier: CA382226438

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790432A>C , CM000673.2:g.102790432A>C GRCh38
NC_000011.9:g.102661163A>C , CM000673.1:g.102661163A>C GRCh37
NC_000011.8:g.102166373A>C NCBI36
NG_011740.1:g.12804T>G
NG_011740.2:g.12804T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.1390T>G (MMP1) MANE Select ENSP00000322788.6:p.Phe464Val
ENST00000680179.1:n.568T>G (MMP1)
ENST00000681445.1:n.564T>G (MMP1)
ENST00000681643.1:n.590T>G (MMP1)
ENST00000315274.6:c.1390T>G (MMP1) ENSP00000322788.6:p.Phe464Val
ENST00000371455.7:n.325-7592A>C (WTAPP1)
ENST00000525739.6:n.390-2713A>C (WTAPP1)
ENST00000544704.1:n.344+6368A>C (WTAPP1)
NM_001145938.1:c.1192T>G (MMP1) NP_001139410.1:p.Phe398Val
NM_002421.3:c.1390T>G (MMP1) NP_002412.1:p.Phe464Val
NR_038390.1:n.390-2713A>C (WTAPP1)
NM_002421.4:c.1390T>G (MMP1) MANE Select NP_002412.1:p.Phe464Val
NM_001145938.2:c.1192T>G (MMP1) NP_001139410.1:p.Phe398Val