Canonical Allele Identifier: CA2602012920

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1157336622
• gnomAD v3: 11-102790976-C-A
• gnomAD v4: 11-102790976-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790976C>A , CM000673.2:g.102790976C>A	GRCh38
NC_000011.9:g.102661707C>A , CM000673.1:g.102661707C>A	GRCh37
NC_000011.8:g.102166917C>A	NCBI36
NG_011740.1:g.12260G>T
NG_011740.2:g.12260G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1197-170G>T (MMP1) MANE Select	ENSP00000322788.6:n.1197-170G>T
ENST00000680179.1:n.375-170G>T (MMP1)
ENST00000681445.1:n.371-170G>T (MMP1)
ENST00000681643.1:n.397-170G>T (MMP1)
ENST00000315274.6:c.1197-170G>T (MMP1)	ENSP00000322788.6:n.1197-170G>T
ENST00000371455.7:n.325-7048C>A (WTAPP1)
ENST00000525739.6:n.390-2169C>A (WTAPP1)
ENST00000544704.1:n.344+6912C>A (WTAPP1)
NM_001145938.1:c.999-170G>T (MMP1)	NP_001139410.1:n.999-170G>T
NM_002421.3:c.1197-170G>T (MMP1)	NP_002412.1:n.1197-170G>T
NR_038390.1:n.390-2169C>A (WTAPP1)
NM_002421.4:c.1197-170G>T (MMP1) MANE Select	NP_002412.1:n.1197-170G>T
NM_001145938.2:c.999-170G>T (MMP1)	NP_001139410.1:n.999-170G>T