Canonical Allele Identifier: CA227360124

Linked Data

ClinVar Variation Id: 1255299
ClinVar RCV Id: RCV001653408
dbSNP Id: rs2071230

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790228A>G , CM000673.2:g.102790228A>G GRCh38
NC_000011.9:g.102660959A>G , CM000673.1:g.102660959A>G GRCh37
NC_000011.8:g.102166169A>G NCBI36
NG_011740.1:g.13008T>C
NG_011740.2:g.13008T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.*184T>C (MMP1) MANE Select ENSP00000322788.6:n.*184T>C
ENST00000680179.1:n.772T>C (MMP1)
ENST00000681445.1:n.768T>C (MMP1)
ENST00000681643.1:n.794T>C (MMP1)
ENST00000315274.6:c.*184T>C (MMP1) ENSP00000322788.6:n.*184T>C
ENST00000371455.7:n.325-7796A>G (WTAPP1)
ENST00000525739.6:n.390-2917A>G (WTAPP1)
ENST00000544704.1:n.344+6164A>G (WTAPP1)
NM_001145938.1:c.*184T>C (MMP1) NP_001139410.1:n.*184T>C
NM_002421.3:c.*184T>C (MMP1) NP_002412.1:n.*184T>C
NR_038390.1:n.390-2917A>G (WTAPP1)
NM_002421.4:c.*184T>C (MMP1) MANE Select NP_002412.1:n.*184T>C
NM_001145938.2:c.*184T>C (MMP1) NP_001139410.1:n.*184T>C