Canonical Allele Identifier: CA2615724730

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790164-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790164G>A , CM000673.2:g.102790164G>A	GRCh38
NC_000011.9:g.102660895G>A , CM000673.1:g.102660895G>A	GRCh37
NC_000011.8:g.102166105G>A	NCBI36
NG_011740.1:g.13072C>T
NG_011740.2:g.13072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*248C>T (MMP1) MANE Select	ENSP00000322788.6:n.*248C>T
ENST00000680179.1:n.836C>T (MMP1)
ENST00000681445.1:n.832C>T (MMP1)
ENST00000681643.1:n.858C>T (MMP1)
ENST00000315274.6:c.*248C>T (MMP1)	ENSP00000322788.6:n.*248C>T
ENST00000371455.7:n.325-7860G>A (WTAPP1)
ENST00000525739.6:n.390-2981G>A (WTAPP1)
ENST00000544704.1:n.344+6100G>A (WTAPP1)
NM_001145938.1:c.*248C>T (MMP1)	NP_001139410.1:n.*248C>T
NM_002421.3:c.*248C>T (MMP1)	NP_002412.1:n.*248C>T
NR_038390.1:n.390-2981G>A (WTAPP1)
NM_002421.4:c.*248C>T (MMP1) MANE Select	NP_002412.1:n.*248C>T
NM_001145938.2:c.*248C>T (MMP1)	NP_001139410.1:n.*248C>T