Canonical Allele Identifier: CA382226757

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1565459247
• gnomAD v4: 11-102790750-T-A
• MyVariant Identifiers: chr11:g.102661481T>A (hg19) ; chr11:g.102790750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790750T>A , CM000673.2:g.102790750T>A	GRCh38
NC_000011.9:g.102661481T>A , CM000673.1:g.102661481T>A	GRCh37
NC_000011.8:g.102166691T>A	NCBI36
NG_011740.1:g.12486A>T
NG_011740.2:g.12486A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1253A>T (MMP1) MANE Select	ENSP00000322788.6:p.Asp418Val
ENST00000680179.1:n.431A>T (MMP1)
ENST00000681445.1:n.427A>T (MMP1)
ENST00000681643.1:n.453A>T (MMP1)
ENST00000315274.6:c.1253A>T (MMP1)	ENSP00000322788.6:p.Asp418Val
ENST00000371455.7:n.325-7274T>A (WTAPP1)
ENST00000525739.6:n.390-2395T>A (WTAPP1)
ENST00000544704.1:n.344+6686T>A (WTAPP1)
NM_001145938.1:c.1055A>T (MMP1)	NP_001139410.1:p.Asp352Val
NM_002421.3:c.1253A>T (MMP1)	NP_002412.1:p.Asp418Val
NR_038390.1:n.390-2395T>A (WTAPP1)
NM_002421.4:c.1253A>T (MMP1) MANE Select	NP_002412.1:p.Asp418Val
NM_001145938.2:c.1055A>T (MMP1)	NP_001139410.1:p.Asp352Val