Canonical Allele Identifier: CA2724643430

Linked Data

dbSNP Id: rs1857980545

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790045T>G , CM000673.2:g.102790045T>G GRCh38
NC_000011.9:g.102660776T>G , CM000673.1:g.102660776T>G GRCh37
NC_000011.8:g.102165986T>G NCBI36
NG_011740.1:g.13191A>C
NG_011740.2:g.13191A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.*367A>C (MMP1) MANE Select ENSP00000322788.6:n.*367A>C
ENST00000680179.1:n.955A>C (MMP1)
ENST00000681445.1:n.951A>C (MMP1)
ENST00000681643.1:n.977A>C (MMP1)
ENST00000315274.6:c.*367A>C (MMP1) ENSP00000322788.6:n.*367A>C
ENST00000371455.7:n.325-7979T>G (WTAPP1)
ENST00000525739.6:n.390-3100T>G (WTAPP1)
ENST00000544704.1:n.344+5981T>G (WTAPP1)
NM_001145938.1:c.*367A>C (MMP1) NP_001139410.1:n.*367A>C
NM_002421.3:c.*367A>C (MMP1) NP_002412.1:n.*367A>C
NR_038390.1:n.390-3100T>G (WTAPP1)
NM_002421.4:c.*367A>C (MMP1) MANE Select NP_002412.1:n.*367A>C
NM_001145938.2:c.*367A>C (MMP1) NP_001139410.1:n.*367A>C