Canonical Allele Identifier: CA227360106

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs994856353
• gnomAD v3: 11-102790202-G-C
• gnomAD v4: 11-102790202-G-C
• MyVariant Identifiers: chr11:g.102660933G>C (hg19) ; chr11:g.102790202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790202G>C , CM000673.2:g.102790202G>C	GRCh38
NC_000011.9:g.102660933G>C , CM000673.1:g.102660933G>C	GRCh37
NC_000011.8:g.102166143G>C	NCBI36
NG_011740.1:g.13034C>G
NG_011740.2:g.13034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*210C>G (MMP1) MANE Select	ENSP00000322788.6:n.*210C>G
ENST00000680179.1:n.798C>G (MMP1)
ENST00000681445.1:n.794C>G (MMP1)
ENST00000681643.1:n.820C>G (MMP1)
ENST00000315274.6:c.*210C>G (MMP1)	ENSP00000322788.6:n.*210C>G
ENST00000371455.7:n.325-7822G>C (WTAPP1)
ENST00000525739.6:n.390-2943G>C (WTAPP1)
ENST00000544704.1:n.344+6138G>C (WTAPP1)
NM_001145938.1:c.*210C>G (MMP1)	NP_001139410.1:n.*210C>G
NM_002421.3:c.*210C>G (MMP1)	NP_002412.1:n.*210C>G
NR_038390.1:n.390-2943G>C (WTAPP1)
NM_002421.4:c.*210C>G (MMP1) MANE Select	NP_002412.1:n.*210C>G
NM_001145938.2:c.*210C>G (MMP1)	NP_001139410.1:n.*210C>G