Canonical Allele Identifier: CA670869910

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1387728460
• gnomAD v3: 11-102789979-A-C
• gnomAD v4: 11-102789979-A-C
• MyVariant Identifiers: chr11:g.102660710A>C (hg19) ; chr11:g.102789979A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789979A>C , CM000673.2:g.102789979A>C	GRCh38
NC_000011.9:g.102660710A>C , CM000673.1:g.102660710A>C	GRCh37
NC_000011.8:g.102165920A>C	NCBI36
NG_011740.1:g.13257T>G
NG_011740.2:g.13257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*433T>G (MMP1) MANE Select	ENSP00000322788.6:n.*433T>G
ENST00000680179.1:n.1021T>G (MMP1)
ENST00000681445.1:n.1017T>G (MMP1)
ENST00000681643.1:n.1043T>G (MMP1)
ENST00000315274.6:c.*433T>G (MMP1)	ENSP00000322788.6:n.*433T>G
ENST00000371455.7:n.325-8045A>C (WTAPP1)
ENST00000525739.6:n.390-3166A>C (WTAPP1)
ENST00000544704.1:n.344+5915A>C (WTAPP1)
NM_001145938.1:c.*433T>G (MMP1)	NP_001139410.1:n.*433T>G
NM_002421.3:c.*433T>G (MMP1)	NP_002412.1:n.*433T>G
NR_038390.1:n.390-3166A>C (WTAPP1)
NM_002421.4:c.*433T>G (MMP1) MANE Select	NP_002412.1:n.*433T>G
NM_001145938.2:c.*433T>G (MMP1)	NP_001139410.1:n.*433T>G