Canonical Allele Identifier: CA382226814

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790774C>G , CM000673.2:g.102790774C>G GRCh38
NC_000011.9:g.102661505C>G , CM000673.1:g.102661505C>G GRCh37
NC_000011.8:g.102166715C>G NCBI36
NG_011740.1:g.12462G>C
NG_011740.2:g.12462G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.1229G>C (MMP1) MANE Select ENSP00000322788.6:p.Gly410Ala
ENST00000680179.1:n.407G>C (MMP1)
ENST00000681445.1:n.403G>C (MMP1)
ENST00000681643.1:n.429G>C (MMP1)
ENST00000315274.6:c.1229G>C (MMP1) ENSP00000322788.6:p.Gly410Ala
ENST00000371455.7:n.325-7250C>G (WTAPP1)
ENST00000525739.6:n.390-2371C>G (WTAPP1)
ENST00000544704.1:n.344+6710C>G (WTAPP1)
NM_001145938.1:c.1031G>C (MMP1) NP_001139410.1:p.Gly344Ala
NM_002421.3:c.1229G>C (MMP1) NP_002412.1:p.Gly410Ala
NR_038390.1:n.390-2371C>G (WTAPP1)
NM_002421.4:c.1229G>C (MMP1) MANE Select NP_002412.1:p.Gly410Ala
NM_001145938.2:c.1031G>C (MMP1) NP_001139410.1:p.Gly344Ala