Canonical Allele Identifier: CA227360129

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs575419559
• gnomAD v2: 11-102660961-A-G
• gnomAD v3: 11-102790230-A-G
• gnomAD v4: 11-102790230-A-G
• MyVariant Identifiers: chr11:g.102660961A>G (hg19) ; chr11:g.102790230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790230A>G , CM000673.2:g.102790230A>G	GRCh38
NC_000011.9:g.102660961A>G , CM000673.1:g.102660961A>G	GRCh37
NC_000011.8:g.102166171A>G	NCBI36
NG_011740.1:g.13006T>C
NG_011740.2:g.13006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*182T>C (MMP1) MANE Select	ENSP00000322788.6:n.*182T>C
ENST00000680179.1:n.770T>C (MMP1)
ENST00000681445.1:n.766T>C (MMP1)
ENST00000681643.1:n.792T>C (MMP1)
ENST00000315274.6:c.*182T>C (MMP1)	ENSP00000322788.6:n.*182T>C
ENST00000371455.7:n.325-7794A>G (WTAPP1)
ENST00000525739.6:n.390-2915A>G (WTAPP1)
ENST00000544704.1:n.344+6166A>G (WTAPP1)
NM_001145938.1:c.*182T>C (MMP1)	NP_001139410.1:n.*182T>C
NM_002421.3:c.*182T>C (MMP1)	NP_002412.1:n.*182T>C
NR_038390.1:n.390-2915A>G (WTAPP1)
NM_002421.4:c.*182T>C (MMP1) MANE Select	NP_002412.1:n.*182T>C
NM_001145938.2:c.*182T>C (MMP1)	NP_001139410.1:n.*182T>C