Canonical Allele Identifier: CA2615728948
Gene: WTAPP1 HGNC NCBI
MMP1 HGNC NCBI

Linked Data

gnomAD v4: 11-102798219-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798219G>T , CM000673.2:g.102798219G>T GRCh38
NC_000011.9:g.102668950G>T , CM000673.1:g.102668950G>T GRCh37
NC_000011.8:g.102174160G>T NCBI36
NG_011740.1:g.5017C>A
NG_011740.2:g.5017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+97G>T (WTAPP1)
ENST00000525739.6:n.682+97G>T (WTAPP1)
ENST00000544704.1:n.443+97G>T (WTAPP1)
NM_001145938.1:c.-173C>A (MMP1) NP_001139410.1:n.-173C>A
NM_002421.3:c.-127C>A (MMP1) NP_002412.1:n.-127C>A
NR_038390.1:n.682+97G>T (WTAPP1)
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