Canonical Allele Identifier: CA2615724384

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102789917T>A , CM000673.2:g.102789917T>A GRCh38
NC_000011.9:g.102660648T>A , CM000673.1:g.102660648T>A GRCh37
NC_000011.8:g.102165858T>A NCBI36
NG_011740.1:g.13319A>T
NG_011740.2:g.13319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000680179.1:n.1083A>T (MMP1)
ENST00000681445.1:n.1079A>T (MMP1)
ENST00000681643.1:n.1105A>T (MMP1)
ENST00000371455.7:n.325-8107T>A (WTAPP1)
ENST00000525739.6:n.390-3228T>A (WTAPP1)
ENST00000544704.1:n.344+5853T>A (WTAPP1)
NM_001145938.1:c.*495A>T (MMP1) NP_001139410.1:n.*495A>T
NM_002421.3:c.*495A>T (MMP1) NP_002412.1:n.*495A>T
NR_038390.1:n.390-3228T>A (WTAPP1)