Canonical Allele Identifier: CA382226396

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790415A>T , CM000673.2:g.102790415A>T GRCh38
NC_000011.9:g.102661146A>T , CM000673.1:g.102661146A>T GRCh37
NC_000011.8:g.102166356A>T NCBI36
NG_011740.1:g.12821T>A
NG_011740.2:g.12821T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.1407T>A (MMP1) MANE Select ENSP00000322788.6:p.Asn469Lys
ENST00000680179.1:n.585T>A (MMP1)
ENST00000681445.1:n.581T>A (MMP1)
ENST00000681643.1:n.607T>A (MMP1)
ENST00000315274.6:c.1407T>A (MMP1) ENSP00000322788.6:p.Asn469Lys
ENST00000371455.7:n.325-7609A>T (WTAPP1)
ENST00000525739.6:n.390-2730A>T (WTAPP1)
ENST00000544704.1:n.344+6351A>T (WTAPP1)
NM_001145938.1:c.1209T>A (MMP1) NP_001139410.1:p.Asn403Lys
NM_002421.3:c.1407T>A (MMP1) NP_002412.1:p.Asn469Lys
NR_038390.1:n.390-2730A>T (WTAPP1)
NM_002421.4:c.1407T>A (MMP1) MANE Select NP_002412.1:p.Asn469Lys
NM_001145938.2:c.1209T>A (MMP1) NP_001139410.1:p.Asn403Lys