Canonical Allele Identifier: CA2615724462

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790018G>T , CM000673.2:g.102790018G>T GRCh38
NC_000011.9:g.102660749G>T , CM000673.1:g.102660749G>T GRCh37
NC_000011.8:g.102165959G>T NCBI36
NG_011740.1:g.13218C>A
NG_011740.2:g.13218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*394C>A (MMP1) MANE Select ENSP00000322788.6:n.*394C>A
ENST00000680179.1:n.982C>A (MMP1)
ENST00000681445.1:n.978C>A (MMP1)
ENST00000681643.1:n.1004C>A (MMP1)
ENST00000315274.6:c.*394C>A (MMP1) ENSP00000322788.6:n.*394C>A
ENST00000371455.7:n.325-8006G>T (WTAPP1)
ENST00000525739.6:n.390-3127G>T (WTAPP1)
ENST00000544704.1:n.344+5954G>T (WTAPP1)
NM_001145938.1:c.*394C>A (MMP1) NP_001139410.1:n.*394C>A
NM_002421.3:c.*394C>A (MMP1) NP_002412.1:n.*394C>A
NR_038390.1:n.390-3127G>T (WTAPP1)
NM_002421.4:c.*394C>A (MMP1) MANE Select NP_002412.1:n.*394C>A
NM_001145938.2:c.*394C>A (MMP1) NP_001139410.1:n.*394C>A