Canonical Allele Identifier: CA2615724780

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790189-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790189A>G , CM000673.2:g.102790189A>G	GRCh38
NC_000011.9:g.102660920A>G , CM000673.1:g.102660920A>G	GRCh37
NC_000011.8:g.102166130A>G	NCBI36
NG_011740.1:g.13047T>C
NG_011740.2:g.13047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*223T>C (MMP1) MANE Select	ENSP00000322788.6:n.*223T>C
ENST00000680179.1:n.811T>C (MMP1)
ENST00000681445.1:n.807T>C (MMP1)
ENST00000681643.1:n.833T>C (MMP1)
ENST00000315274.6:c.*223T>C (MMP1)	ENSP00000322788.6:n.*223T>C
ENST00000371455.7:n.325-7835A>G (WTAPP1)
ENST00000525739.6:n.390-2956A>G (WTAPP1)
ENST00000544704.1:n.344+6125A>G (WTAPP1)
NM_001145938.1:c.*223T>C (MMP1)	NP_001139410.1:n.*223T>C
NM_002421.3:c.*223T>C (MMP1)	NP_002412.1:n.*223T>C
NR_038390.1:n.390-2956A>G (WTAPP1)
NM_002421.4:c.*223T>C (MMP1) MANE Select	NP_002412.1:n.*223T>C
NM_001145938.2:c.*223T>C (MMP1)	NP_001139410.1:n.*223T>C