Canonical Allele Identifier: CA2615725019

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790347C>G , CM000673.2:g.102790347C>G GRCh38
NC_000011.9:g.102661078C>G , CM000673.1:g.102661078C>G GRCh37
NC_000011.8:g.102166288C>G NCBI36
NG_011740.1:g.12889G>C
NG_011740.2:g.12889G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*65G>C (MMP1) MANE Select ENSP00000322788.6:n.*65G>C
ENST00000680179.1:n.653G>C (MMP1)
ENST00000681445.1:n.649G>C (MMP1)
ENST00000681643.1:n.675G>C (MMP1)
ENST00000315274.6:c.*65G>C (MMP1) ENSP00000322788.6:n.*65G>C
ENST00000371455.7:n.325-7677C>G (WTAPP1)
ENST00000525739.6:n.390-2798C>G (WTAPP1)
ENST00000544704.1:n.344+6283C>G (WTAPP1)
NM_001145938.1:c.*65G>C (MMP1) NP_001139410.1:n.*65G>C
NM_002421.3:c.*65G>C (MMP1) NP_002412.1:n.*65G>C
NR_038390.1:n.390-2798C>G (WTAPP1)
NM_002421.4:c.*65G>C (MMP1) MANE Select NP_002412.1:n.*65G>C
NM_001145938.2:c.*65G>C (MMP1) NP_001139410.1:n.*65G>C