Canonical Allele Identifier: CA382226738

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1858004306
• gnomAD v4: 11-102790742-C-T
• MyVariant Identifiers: chr11:g.102661473C>T (hg19) ; chr11:g.102790742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790742C>T , CM000673.2:g.102790742C>T	GRCh38
NC_000011.9:g.102661473C>T , CM000673.1:g.102661473C>T	GRCh37
NC_000011.8:g.102166683C>T	NCBI36
NG_011740.1:g.12494G>A
NG_011740.2:g.12494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000315274.7:c.1261G>A (MMP1) MANE Select	ENSP00000322788.6:p.Gly421Arg
ENST00000680179.1:n.439G>A (MMP1)
ENST00000681445.1:n.435G>A (MMP1)
ENST00000681643.1:n.461G>A (MMP1)
ENST00000315274.6:c.1261G>A (MMP1)	ENSP00000322788.6:p.Gly421Arg
ENST00000371455.7:n.325-7282C>T (WTAPP1)
ENST00000525739.6:n.390-2403C>T (WTAPP1)
ENST00000544704.1:n.344+6678C>T (WTAPP1)
NM_001145938.1:c.1063G>A (MMP1)	NP_001139410.1:p.Gly355Arg
NM_002421.3:c.1261G>A (MMP1)	NP_002412.1:p.Gly421Arg
NR_038390.1:n.390-2403C>T (WTAPP1)
NM_002421.4:c.1261G>A (MMP1) MANE Select	NP_002412.1:p.Gly421Arg
NM_001145938.2:c.1063G>A (MMP1)	NP_001139410.1:p.Gly355Arg