Canonical Allele Identifier: CA2615728925

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798200C>T , CM000673.2:g.102798200C>T GRCh38
NC_000011.9:g.102668931C>T , CM000673.1:g.102668931C>T GRCh37
NC_000011.8:g.102174141C>T NCBI36
NG_011740.1:g.5036G>A
NG_011740.2:g.5036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+78C>T (WTAPP1)
ENST00000525739.6:n.682+78C>T (WTAPP1)
ENST00000544704.1:n.443+78C>T (WTAPP1)
NM_001145938.1:c.-154G>A (MMP1) NP_001139410.1:n.-154G>A
NM_002421.3:c.-108G>A (MMP1) NP_002412.1:n.-108G>A
NR_038390.1:n.682+78C>T (WTAPP1)