Canonical Allele Identifier: CA2615724939

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790281G>T , CM000673.2:g.102790281G>T GRCh38
NC_000011.9:g.102661012G>T , CM000673.1:g.102661012G>T GRCh37
NC_000011.8:g.102166222G>T NCBI36
NG_011740.1:g.12955C>A
NG_011740.2:g.12955C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*131C>A (MMP1) MANE Select ENSP00000322788.6:n.*131C>A
ENST00000680179.1:n.719C>A (MMP1)
ENST00000681445.1:n.715C>A (MMP1)
ENST00000681643.1:n.741C>A (MMP1)
ENST00000315274.6:c.*131C>A (MMP1) ENSP00000322788.6:n.*131C>A
ENST00000371455.7:n.325-7743G>T (WTAPP1)
ENST00000525739.6:n.390-2864G>T (WTAPP1)
ENST00000544704.1:n.344+6217G>T (WTAPP1)
NM_001145938.1:c.*131C>A (MMP1) NP_001139410.1:n.*131C>A
NM_002421.3:c.*131C>A (MMP1) NP_002412.1:n.*131C>A
NR_038390.1:n.390-2864G>T (WTAPP1)
NM_002421.4:c.*131C>A (MMP1) MANE Select NP_002412.1:n.*131C>A
NM_001145938.2:c.*131C>A (MMP1) NP_001139410.1:n.*131C>A