Canonical Allele Identifier: CA601245915
Gene: MMP1 HGNC NCBI
WTAPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1467756928
gnomAD v2: 11-102660567-C-T
gnomAD v3: 11-102789836-C-T
gnomAD v4: 11-102789836-C-T
MyVariant Identifiers: chr11:g.102660567C>T (hg19) chr11:g.102789836C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102789836C>T , CM000673.2:g.102789836C>T GRCh38
NC_000011.9:g.102660567C>T , CM000673.1:g.102660567C>T GRCh37
NC_000011.8:g.102165777C>T NCBI36
NG_011740.1:g.13400G>A
NG_011740.2:g.13400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000680179.1:n.1164G>A (MMP1)
ENST00000681445.1:n.1160G>A (MMP1)
ENST00000681643.1:n.1186G>A (MMP1)
ENST00000371455.7:n.325-8188C>T (WTAPP1)
ENST00000525739.6:n.390-3309C>T (WTAPP1)
ENST00000544704.1:n.344+5772C>T (WTAPP1)
NR_038390.1:n.390-3309C>T (WTAPP1)
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