Canonical Allele Identifier: CA2615724398

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1857974839
• gnomAD v4: 11-102789945-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789945T>C , CM000673.2:g.102789945T>C	GRCh38
NC_000011.9:g.102660676T>C , CM000673.1:g.102660676T>C	GRCh37
NC_000011.8:g.102165886T>C	NCBI36
NG_011740.1:g.13291A>G
NG_011740.2:g.13291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*467A>G (MMP1) MANE Select	ENSP00000322788.6:n.*467A>G
ENST00000680179.1:n.1055A>G (MMP1)
ENST00000681445.1:n.1051A>G (MMP1)
ENST00000681643.1:n.1077A>G (MMP1)
ENST00000315274.6:c.*467A>G (MMP1)	ENSP00000322788.6:n.*467A>G
ENST00000371455.7:n.325-8079T>C (WTAPP1)
ENST00000525739.6:n.390-3200T>C (WTAPP1)
ENST00000544704.1:n.344+5881T>C (WTAPP1)
NM_001145938.1:c.*467A>G (MMP1)	NP_001139410.1:n.*467A>G
NM_002421.3:c.*467A>G (MMP1)	NP_002412.1:n.*467A>G
NR_038390.1:n.390-3200T>C (WTAPP1)
NM_002421.4:c.*467A>G (MMP1) MANE Select	NP_002412.1:n.*467A>G
NM_001145938.2:c.*467A>G (MMP1)	NP_001139410.1:n.*467A>G