Canonical Allele Identifier: CA2615726049

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790948A>G , CM000673.2:g.102790948A>G GRCh38
NC_000011.9:g.102661679A>G , CM000673.1:g.102661679A>G GRCh37
NC_000011.8:g.102166889A>G NCBI36
NG_011740.1:g.12288T>C
NG_011740.2:g.12288T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.1197-142T>C (MMP1) MANE Select ENSP00000322788.6:n.1197-142T>C
ENST00000680179.1:n.375-142T>C (MMP1)
ENST00000681445.1:n.371-142T>C (MMP1)
ENST00000681643.1:n.397-142T>C (MMP1)
ENST00000315274.6:c.1197-142T>C (MMP1) ENSP00000322788.6:n.1197-142T>C
ENST00000371455.7:n.325-7076A>G (WTAPP1)
ENST00000525739.6:n.390-2197A>G (WTAPP1)
ENST00000544704.1:n.344+6884A>G (WTAPP1)
NM_001145938.1:c.999-142T>C (MMP1) NP_001139410.1:n.999-142T>C
NM_002421.3:c.1197-142T>C (MMP1) NP_002412.1:n.1197-142T>C
NR_038390.1:n.390-2197A>G (WTAPP1)
NM_002421.4:c.1197-142T>C (MMP1) MANE Select NP_002412.1:n.1197-142T>C
NM_001145938.2:c.999-142T>C (MMP1) NP_001139410.1:n.999-142T>C