Canonical Allele Identifier: CA941631157

Gene: WTAPP1 MMP1

Linked Data

• dbSNP Id: rs1858262407
• gnomAD v3: 11-102798233-G-A
• gnomAD v4: 11-102798233-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102798233G>A , CM000673.2:g.102798233G>A	GRCh38
NC_000011.9:g.102668964G>A , CM000673.1:g.102668964G>A	GRCh37
NC_000011.8:g.102174174G>A	NCBI36
NG_011740.1:g.5003C>T
NG_011740.2:g.5003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371455.7:n.423+111G>A (WTAPP1)
ENST00000525739.6:n.682+111G>A (WTAPP1)
ENST00000544704.1:n.443+111G>A (WTAPP1)
NM_001145938.1:c.-187C>T (MMP1)	NP_001139410.1:n.-187C>T
NM_002421.3:c.-141C>T (MMP1)	NP_002412.1:n.-141C>T
NR_038390.1:n.682+111G>A (WTAPP1)