Canonical Allele Identifier: CA476737617

Linked Data

MyVariant Identifiers: chr11:g.102661504A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790773A>G , CM000673.2:g.102790773A>G GRCh38
NC_000011.9:g.102661504A>G , CM000673.1:g.102661504A>G GRCh37
NC_000011.8:g.102166714A>G NCBI36
NG_011740.1:g.12463T>C
NG_011740.2:g.12463T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315274.7:c.1230T>C (MMP1) MANE Select ENSP00000322788.6:p.Gly410=
ENST00000680179.1:n.408T>C (MMP1)
ENST00000681445.1:n.404T>C (MMP1)
ENST00000681643.1:n.430T>C (MMP1)
ENST00000315274.6:c.1230T>C (MMP1) ENSP00000322788.6:p.Gly410=
ENST00000371455.7:n.325-7251A>G (WTAPP1)
ENST00000525739.6:n.390-2372A>G (WTAPP1)
ENST00000544704.1:n.344+6709A>G (WTAPP1)
NM_001145938.1:c.1032T>C (MMP1) NP_001139410.1:p.Gly344=
NM_002421.3:c.1230T>C (MMP1) NP_002412.1:p.Gly410=
NR_038390.1:n.390-2372A>G (WTAPP1)
NM_002421.4:c.1230T>C (MMP1) MANE Select NP_002412.1:p.Gly410=
NM_001145938.2:c.1032T>C (MMP1) NP_001139410.1:p.Gly344=