Canonical Allele Identifier: CA2615724918

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790273-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790273C>A , CM000673.2:g.102790273C>A	GRCh38
NC_000011.9:g.102661004C>A , CM000673.1:g.102661004C>A	GRCh37
NC_000011.8:g.102166214C>A	NCBI36
NG_011740.1:g.12963G>T
NG_011740.2:g.12963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*139G>T (MMP1) MANE Select	ENSP00000322788.6:n.*139G>T
ENST00000680179.1:n.727G>T (MMP1)
ENST00000681445.1:n.723G>T (MMP1)
ENST00000681643.1:n.749G>T (MMP1)
ENST00000315274.6:c.*139G>T (MMP1)	ENSP00000322788.6:n.*139G>T
ENST00000371455.7:n.325-7751C>A (WTAPP1)
ENST00000525739.6:n.390-2872C>A (WTAPP1)
ENST00000544704.1:n.344+6209C>A (WTAPP1)
NM_001145938.1:c.*139G>T (MMP1)	NP_001139410.1:n.*139G>T
NM_002421.3:c.*139G>T (MMP1)	NP_002412.1:n.*139G>T
NR_038390.1:n.390-2872C>A (WTAPP1)
NM_002421.4:c.*139G>T (MMP1) MANE Select	NP_002412.1:n.*139G>T
NM_001145938.2:c.*139G>T (MMP1)	NP_001139410.1:n.*139G>T