Canonical Allele Identifier: CA2724643455

Linked Data

dbSNP Id: rs1857984940

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790197T>C , CM000673.2:g.102790197T>C GRCh38
NC_000011.9:g.102660928T>C , CM000673.1:g.102660928T>C GRCh37
NC_000011.8:g.102166138T>C NCBI36
NG_011740.1:g.13039A>G
NG_011740.2:g.13039A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*215A>G (MMP1) MANE Select ENSP00000322788.6:n.*215A>G
ENST00000680179.1:n.803A>G (MMP1)
ENST00000681445.1:n.799A>G (MMP1)
ENST00000681643.1:n.825A>G (MMP1)
ENST00000315274.6:c.*215A>G (MMP1) ENSP00000322788.6:n.*215A>G
ENST00000371455.7:n.325-7827T>C (WTAPP1)
ENST00000525739.6:n.390-2948T>C (WTAPP1)
ENST00000544704.1:n.344+6133T>C (WTAPP1)
NM_001145938.1:c.*215A>G (MMP1) NP_001139410.1:n.*215A>G
NM_002421.3:c.*215A>G (MMP1) NP_002412.1:n.*215A>G
NR_038390.1:n.390-2948T>C (WTAPP1)
NM_002421.4:c.*215A>G (MMP1) MANE Select NP_002412.1:n.*215A>G
NM_001145938.2:c.*215A>G (MMP1) NP_001139410.1:n.*215A>G