Canonical Allele Identifier: CA2615728919

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798193G>T , CM000673.2:g.102798193G>T GRCh38
NC_000011.9:g.102668924G>T , CM000673.1:g.102668924G>T GRCh37
NC_000011.8:g.102174134G>T NCBI36
NG_011740.1:g.5043C>A
NG_011740.2:g.5043C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+71G>T (WTAPP1)
ENST00000525739.6:n.682+71G>T (WTAPP1)
ENST00000544704.1:n.443+71G>T (WTAPP1)
NM_001145938.1:c.-147C>A (MMP1) NP_001139410.1:n.-147C>A
NM_002421.3:c.-101C>A (MMP1) NP_002412.1:n.-101C>A
NR_038390.1:n.682+71G>T (WTAPP1)