Canonical Allele Identifier: CA2615728938

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798214C>A , CM000673.2:g.102798214C>A GRCh38
NC_000011.9:g.102668945C>A , CM000673.1:g.102668945C>A GRCh37
NC_000011.8:g.102174155C>A NCBI36
NG_011740.1:g.5022G>T
NG_011740.2:g.5022G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+92C>A (WTAPP1)
ENST00000525739.6:n.682+92C>A (WTAPP1)
ENST00000544704.1:n.443+92C>A (WTAPP1)
NM_001145938.1:c.-168G>T (MMP1) NP_001139410.1:n.-168G>T
NM_002421.3:c.-122G>T (MMP1) NP_002412.1:n.-122G>T
NR_038390.1:n.682+92C>A (WTAPP1)