Canonical Allele Identifier: CA227360119

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs886686791
• gnomAD v4: 11-102790227-T-A
• MyVariant Identifiers: chr11:g.102660958T>A (hg19) ; chr11:g.102790227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790227T>A , CM000673.2:g.102790227T>A	GRCh38
NC_000011.9:g.102660958T>A , CM000673.1:g.102660958T>A	GRCh37
NC_000011.8:g.102166168T>A	NCBI36
NG_011740.1:g.13009A>T
NG_011740.2:g.13009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*185A>T (MMP1) MANE Select	ENSP00000322788.6:n.*185A>T
ENST00000680179.1:n.773A>T (MMP1)
ENST00000681445.1:n.769A>T (MMP1)
ENST00000681643.1:n.795A>T (MMP1)
ENST00000315274.6:c.*185A>T (MMP1)	ENSP00000322788.6:n.*185A>T
ENST00000371455.7:n.325-7797T>A (WTAPP1)
ENST00000525739.6:n.390-2918T>A (WTAPP1)
ENST00000544704.1:n.344+6163T>A (WTAPP1)
NM_001145938.1:c.*185A>T (MMP1)	NP_001139410.1:n.*185A>T
NM_002421.3:c.*185A>T (MMP1)	NP_002412.1:n.*185A>T
NR_038390.1:n.390-2918T>A (WTAPP1)
NM_002421.4:c.*185A>T (MMP1) MANE Select	NP_002412.1:n.*185A>T
NM_001145938.2:c.*185A>T (MMP1)	NP_001139410.1:n.*185A>T