Canonical Allele Identifier: CA6250694
Gene: MMP1 HGNC NCBI
WTAPP1 HGNC NCBI
gnomAD v2:
11:102668022 C / T
gnomAD v3:
11:102797291 C / T
gnomAD v4:
chr11-102797291-C-T
Joint Max Group AF 0.14608281 (AFR)
Genomes Max Group AF 0.14038094 (AFR)
Exomes Max Group AF 0.15103162 (AFR)
ClinVar RCV:
RCV000454871
RCV001653799
ClinVar Variation:
403093
dbSNP:
10488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102797291C>T , CM000673.2:g.102797291C>T GRCh38
NC_000011.9:g.102668022C>T , CM000673.1:g.102668022C>T GRCh37
NC_000011.8:g.102173232C>T NCBI36
NG_011740.1:g.5945G>A
NG_011740.2:g.5945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.315G>A (MMP1) MANE Select ENSP00000322788.6:p.Gly105=
ENST00000315274.6:c.315G>A (MMP1) ENSP00000322788.6:p.Gly105=
ENST00000371455.7:n.325-733C>T (WTAPP1)
ENST00000525739.6:n.584-733C>T (WTAPP1)
ENST00000544704.1:n.345-733C>T (WTAPP1)
NM_001145938.1:c.117G>A (MMP1) NP_001139410.1:p.Gly39=
NM_002421.3:c.315G>A (MMP1) NP_002412.1:p.Gly105=
NR_038390.1:n.584-733C>T (WTAPP1)
NM_002421.4:c.315G>A (MMP1) MANE Select NP_002412.1:p.Gly105=
NM_001145938.2:c.117G>A (MMP1) NP_001139410.1:p.Gly39=
Search 100 bp 5'
Search 100 bp 3'