Canonical Allele Identifier: CA941623926

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1858011256
• gnomAD v3: 11-102790922-T-C
• gnomAD v4: 11-102790922-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790922T>C , CM000673.2:g.102790922T>C	GRCh38
NC_000011.9:g.102661653T>C , CM000673.1:g.102661653T>C	GRCh37
NC_000011.8:g.102166863T>C	NCBI36
NG_011740.1:g.12314A>G
NG_011740.2:g.12314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1197-116A>G (MMP1) MANE Select	ENSP00000322788.6:n.1197-116A>G
ENST00000680179.1:n.375-116A>G (MMP1)
ENST00000681445.1:n.371-116A>G (MMP1)
ENST00000681643.1:n.397-116A>G (MMP1)
ENST00000315274.6:c.1197-116A>G (MMP1)	ENSP00000322788.6:n.1197-116A>G
ENST00000371455.7:n.325-7102T>C (WTAPP1)
ENST00000525739.6:n.390-2223T>C (WTAPP1)
ENST00000544704.1:n.344+6858T>C (WTAPP1)
NM_001145938.1:c.999-116A>G (MMP1)	NP_001139410.1:n.999-116A>G
NM_002421.3:c.1197-116A>G (MMP1)	NP_002412.1:n.1197-116A>G
NR_038390.1:n.390-2223T>C (WTAPP1)
NM_002421.4:c.1197-116A>G (MMP1) MANE Select	NP_002412.1:n.1197-116A>G
NM_001145938.2:c.999-116A>G (MMP1)	NP_001139410.1:n.999-116A>G