Canonical Allele Identifier: CA382226423

Linked Data

dbSNP Id: rs1591076155

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790426A>C , CM000673.2:g.102790426A>C GRCh38
NC_000011.9:g.102661157A>C , CM000673.1:g.102661157A>C GRCh37
NC_000011.8:g.102166367A>C NCBI36
NG_011740.1:g.12810T>G
NG_011740.2:g.12810T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.1396T>G (MMP1) MANE Select ENSP00000322788.6:p.Cys466Gly
ENST00000680179.1:n.574T>G (MMP1)
ENST00000681445.1:n.570T>G (MMP1)
ENST00000681643.1:n.596T>G (MMP1)
ENST00000315274.6:c.1396T>G (MMP1) ENSP00000322788.6:p.Cys466Gly
ENST00000371455.7:n.325-7598A>C (WTAPP1)
ENST00000525739.6:n.390-2719A>C (WTAPP1)
ENST00000544704.1:n.344+6362A>C (WTAPP1)
NM_001145938.1:c.1198T>G (MMP1) NP_001139410.1:p.Cys400Gly
NM_002421.3:c.1396T>G (MMP1) NP_002412.1:p.Cys466Gly
NR_038390.1:n.390-2719A>C (WTAPP1)
NM_002421.4:c.1396T>G (MMP1) MANE Select NP_002412.1:p.Cys466Gly
NM_001145938.2:c.1198T>G (MMP1) NP_001139410.1:p.Cys400Gly