Canonical Allele Identifier: CA227359843
Gene: MMP1 HGNC NCBI
WTAPP1 HGNC NCBI

Linked Data

dbSNP Id: rs17880681
gnomAD v2: 11-102660538-T-C
gnomAD v3: 11-102789807-T-C
gnomAD v4: 11-102789807-T-C
MyVariant Identifiers: chr11:g.102660538T>C (hg19) chr11:g.102789807T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102789807T>C , CM000673.2:g.102789807T>C GRCh38
NC_000011.9:g.102660538T>C , CM000673.1:g.102660538T>C GRCh37
NC_000011.8:g.102165748T>C NCBI36
NG_011740.1:g.13429A>G
NG_011740.2:g.13429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000680179.1:n.1193A>G (MMP1)
ENST00000681445.1:n.1189A>G (MMP1)
ENST00000681643.1:n.1215A>G (MMP1)
ENST00000371455.7:n.325-8217T>C (WTAPP1)
ENST00000525739.6:n.390-3338T>C (WTAPP1)
ENST00000544704.1:n.344+5743T>C (WTAPP1)
NR_038390.1:n.390-3338T>C (WTAPP1)
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