Canonical Allele Identifier: CA2724643539

Linked Data

dbSNP Id: rs1858015049

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102791033C>T , CM000673.2:g.102791033C>T GRCh38
NC_000011.9:g.102661764C>T , CM000673.1:g.102661764C>T GRCh37
NC_000011.8:g.102166974C>T NCBI36
NG_011740.1:g.12203G>A
NG_011740.2:g.12203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.1197-227G>A (MMP1) MANE Select ENSP00000322788.6:n.1197-227G>A
ENST00000680179.1:n.375-227G>A (MMP1)
ENST00000681445.1:n.371-227G>A (MMP1)
ENST00000681643.1:n.397-227G>A (MMP1)
ENST00000315274.6:c.1197-227G>A (MMP1) ENSP00000322788.6:n.1197-227G>A
ENST00000371455.7:n.325-6991C>T (WTAPP1)
ENST00000525739.6:n.390-2112C>T (WTAPP1)
ENST00000544704.1:n.344+6969C>T (WTAPP1)
NM_001145938.1:c.999-227G>A (MMP1) NP_001139410.1:n.999-227G>A
NM_002421.3:c.1197-227G>A (MMP1) NP_002412.1:n.1197-227G>A
NR_038390.1:n.390-2112C>T (WTAPP1)
NM_002421.4:c.1197-227G>A (MMP1) MANE Select NP_002412.1:n.1197-227G>A
NM_001145938.2:c.999-227G>A (MMP1) NP_001139410.1:n.999-227G>A