Canonical Allele Identifier: CA2615726007

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790936A>G , CM000673.2:g.102790936A>G GRCh38
NC_000011.9:g.102661667A>G , CM000673.1:g.102661667A>G GRCh37
NC_000011.8:g.102166877A>G NCBI36
NG_011740.1:g.12300T>C
NG_011740.2:g.12300T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.1197-130T>C (MMP1) MANE Select ENSP00000322788.6:n.1197-130T>C
ENST00000680179.1:n.375-130T>C (MMP1)
ENST00000681445.1:n.371-130T>C (MMP1)
ENST00000681643.1:n.397-130T>C (MMP1)
ENST00000315274.6:c.1197-130T>C (MMP1) ENSP00000322788.6:n.1197-130T>C
ENST00000371455.7:n.325-7088A>G (WTAPP1)
ENST00000525739.6:n.390-2209A>G (WTAPP1)
ENST00000544704.1:n.344+6872A>G (WTAPP1)
NM_001145938.1:c.999-130T>C (MMP1) NP_001139410.1:n.999-130T>C
NM_002421.3:c.1197-130T>C (MMP1) NP_002412.1:n.1197-130T>C
NR_038390.1:n.390-2209A>G (WTAPP1)
NM_002421.4:c.1197-130T>C (MMP1) MANE Select NP_002412.1:n.1197-130T>C
NM_001145938.2:c.999-130T>C (MMP1) NP_001139410.1:n.999-130T>C