Canonical Allele Identifier: CA2615724540

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790067-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790067T>A , CM000673.2:g.102790067T>A	GRCh38
NC_000011.9:g.102660798T>A , CM000673.1:g.102660798T>A	GRCh37
NC_000011.8:g.102166008T>A	NCBI36
NG_011740.1:g.13169A>T
NG_011740.2:g.13169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*345A>T (MMP1) MANE Select	ENSP00000322788.6:n.*345A>T
ENST00000680179.1:n.933A>T (MMP1)
ENST00000681445.1:n.929A>T (MMP1)
ENST00000681643.1:n.955A>T (MMP1)
ENST00000315274.6:c.*345A>T (MMP1)	ENSP00000322788.6:n.*345A>T
ENST00000371455.7:n.325-7957T>A (WTAPP1)
ENST00000525739.6:n.390-3078T>A (WTAPP1)
ENST00000544704.1:n.344+6003T>A (WTAPP1)
NM_001145938.1:c.*345A>T (MMP1)	NP_001139410.1:n.*345A>T
NM_002421.3:c.*345A>T (MMP1)	NP_002412.1:n.*345A>T
NR_038390.1:n.390-3078T>A (WTAPP1)
NM_002421.4:c.*345A>T (MMP1) MANE Select	NP_002412.1:n.*345A>T
NM_001145938.2:c.*345A>T (MMP1)	NP_001139410.1:n.*345A>T