Canonical Allele Identifier: CA13427570

Linked Data

ClinVar Variation Id: 1267876
ClinVar RCV Id: RCV001678429
dbSNP Id: rs5854

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790143G>A , CM000673.2:g.102790143G>A GRCh38
NC_000011.9:g.102660874G>A , CM000673.1:g.102660874G>A GRCh37
NC_000011.8:g.102166084G>A NCBI36
NG_011740.1:g.13093C>T
NG_011740.2:g.13093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.*269C>T (MMP1) MANE Select ENSP00000322788.6:n.*269C>T
ENST00000680179.1:n.857C>T (MMP1)
ENST00000681445.1:n.853C>T (MMP1)
ENST00000681643.1:n.879C>T (MMP1)
ENST00000315274.6:c.*269C>T (MMP1) ENSP00000322788.6:n.*269C>T
ENST00000371455.7:n.325-7881G>A (WTAPP1)
ENST00000525739.6:n.390-3002G>A (WTAPP1)
ENST00000544704.1:n.344+6079G>A (WTAPP1)
NM_001145938.1:c.*269C>T (MMP1) NP_001139410.1:n.*269C>T
NM_002421.3:c.*269C>T (MMP1) NP_002412.1:n.*269C>T
NR_038390.1:n.390-3002G>A (WTAPP1)
NM_002421.4:c.*269C>T (MMP1) MANE Select NP_002412.1:n.*269C>T
NM_001145938.2:c.*269C>T (MMP1) NP_001139410.1:n.*269C>T