Canonical Allele Identifier: CA2615728944

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798216G>C , CM000673.2:g.102798216G>C GRCh38
NC_000011.9:g.102668947G>C , CM000673.1:g.102668947G>C GRCh37
NC_000011.8:g.102174157G>C NCBI36
NG_011740.1:g.5020C>G
NG_011740.2:g.5020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+94G>C (WTAPP1)
ENST00000525739.6:n.682+94G>C (WTAPP1)
ENST00000544704.1:n.443+94G>C (WTAPP1)
NM_001145938.1:c.-170C>G (MMP1) NP_001139410.1:n.-170C>G
NM_002421.3:c.-124C>G (MMP1) NP_002412.1:n.-124C>G
NR_038390.1:n.682+94G>C (WTAPP1)