Canonical Allele Identifier: CA2615724757

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790177-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790177C>T , CM000673.2:g.102790177C>T	GRCh38
NC_000011.9:g.102660908C>T , CM000673.1:g.102660908C>T	GRCh37
NC_000011.8:g.102166118C>T	NCBI36
NG_011740.1:g.13059G>A
NG_011740.2:g.13059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*235G>A (MMP1) MANE Select	ENSP00000322788.6:n.*235G>A
ENST00000680179.1:n.823G>A (MMP1)
ENST00000681445.1:n.819G>A (MMP1)
ENST00000681643.1:n.845G>A (MMP1)
ENST00000315274.6:c.*235G>A (MMP1)	ENSP00000322788.6:n.*235G>A
ENST00000371455.7:n.325-7847C>T (WTAPP1)
ENST00000525739.6:n.390-2968C>T (WTAPP1)
ENST00000544704.1:n.344+6113C>T (WTAPP1)
NM_001145938.1:c.*235G>A (MMP1)	NP_001139410.1:n.*235G>A
NM_002421.3:c.*235G>A (MMP1)	NP_002412.1:n.*235G>A
NR_038390.1:n.390-2968C>T (WTAPP1)
NM_002421.4:c.*235G>A (MMP1) MANE Select	NP_002412.1:n.*235G>A
NM_001145938.2:c.*235G>A (MMP1)	NP_001139410.1:n.*235G>A