Canonical Allele Identifier: CA670869909

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1400807759
• gnomAD v3: 11-102789971-G-A
• gnomAD v4: 11-102789971-G-A
• MyVariant Identifiers: chr11:g.102660702G>A (hg19) ; chr11:g.102789971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789971G>A , CM000673.2:g.102789971G>A	GRCh38
NC_000011.9:g.102660702G>A , CM000673.1:g.102660702G>A	GRCh37
NC_000011.8:g.102165912G>A	NCBI36
NG_011740.1:g.13265C>T
NG_011740.2:g.13265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000315274.7:c.*441C>T (MMP1) MANE Select	ENSP00000322788.6:n.*441C>T
ENST00000680179.1:n.1029C>T (MMP1)
ENST00000681445.1:n.1025C>T (MMP1)
ENST00000681643.1:n.1051C>T (MMP1)
ENST00000315274.6:c.*441C>T (MMP1)	ENSP00000322788.6:n.*441C>T
ENST00000371455.7:n.325-8053G>A (WTAPP1)
ENST00000525739.6:n.390-3174G>A (WTAPP1)
ENST00000544704.1:n.344+5907G>A (WTAPP1)
NM_001145938.1:c.*441C>T (MMP1)	NP_001139410.1:n.*441C>T
NM_002421.3:c.*441C>T (MMP1)	NP_002412.1:n.*441C>T
NR_038390.1:n.390-3174G>A (WTAPP1)
NM_002421.4:c.*441C>T (MMP1) MANE Select	NP_002412.1:n.*441C>T
NM_001145938.2:c.*441C>T (MMP1)	NP_001139410.1:n.*441C>T