Canonical Allele Identifier: CA2793420779

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790851G>A , CM000673.2:g.102790851G>A GRCh38
NC_000011.9:g.102661582G>A , CM000673.1:g.102661582G>A GRCh37
NC_000011.8:g.102166792G>A NCBI36
NG_011740.1:g.12385C>T
NG_011740.2:g.12385C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.1197-45C>T (MMP1) MANE Select ENSP00000322788.6:n.1197-45C>T
ENST00000680179.1:n.375-45C>T (MMP1)
ENST00000681445.1:n.371-45C>T (MMP1)
ENST00000681643.1:n.397-45C>T (MMP1)
ENST00000315274.6:c.1197-45C>T (MMP1) ENSP00000322788.6:n.1197-45C>T
ENST00000371455.7:n.325-7173G>A (WTAPP1)
ENST00000525739.6:n.390-2294G>A (WTAPP1)
ENST00000544704.1:n.344+6787G>A (WTAPP1)
NM_001145938.1:c.999-45C>T (MMP1) NP_001139410.1:n.999-45C>T
NM_002421.3:c.1197-45C>T (MMP1) NP_002412.1:n.1197-45C>T
NR_038390.1:n.390-2294G>A (WTAPP1)
NM_002421.4:c.1197-45C>T (MMP1) MANE Select NP_002412.1:n.1197-45C>T
NM_001145938.2:c.999-45C>T (MMP1) NP_001139410.1:n.999-45C>T