Canonical Allele Identifier: CA941623607

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1857976059
• gnomAD v3: 11-102789988-C-T
• gnomAD v4: 11-102789988-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789988C>T , CM000673.2:g.102789988C>T	GRCh38
NC_000011.9:g.102660719C>T , CM000673.1:g.102660719C>T	GRCh37
NC_000011.8:g.102165929C>T	NCBI36
NG_011740.1:g.13248G>A
NG_011740.2:g.13248G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000315274.7:c.*424G>A (MMP1) MANE Select	ENSP00000322788.6:n.*424G>A
ENST00000680179.1:n.1012G>A (MMP1)
ENST00000681445.1:n.1008G>A (MMP1)
ENST00000681643.1:n.1034G>A (MMP1)
ENST00000315274.6:c.*424G>A (MMP1)	ENSP00000322788.6:n.*424G>A
ENST00000371455.7:n.325-8036C>T (WTAPP1)
ENST00000525739.6:n.390-3157C>T (WTAPP1)
ENST00000544704.1:n.344+5924C>T (WTAPP1)
NM_001145938.1:c.*424G>A (MMP1)	NP_001139410.1:n.*424G>A
NM_002421.3:c.*424G>A (MMP1)	NP_002412.1:n.*424G>A
NR_038390.1:n.390-3157C>T (WTAPP1)
NM_002421.4:c.*424G>A (MMP1) MANE Select	NP_002412.1:n.*424G>A
NM_001145938.2:c.*424G>A (MMP1)	NP_001139410.1:n.*424G>A