Canonical Allele Identifier: CA382226708

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1858003595
• gnomAD v4: 11-102790728-T-G
• MyVariant Identifiers: chr11:g.102661459T>G (hg19) ; chr11:g.102790728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790728T>G , CM000673.2:g.102790728T>G	GRCh38
NC_000011.9:g.102661459T>G , CM000673.1:g.102661459T>G	GRCh37
NC_000011.8:g.102166669T>G	NCBI36
NG_011740.1:g.12508A>C
NG_011740.2:g.12508A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315274.7:c.1275A>C (MMP1) MANE Select	ENSP00000322788.6:p.Lys425Asn
ENST00000680179.1:n.453A>C (MMP1)
ENST00000681445.1:n.449A>C (MMP1)
ENST00000681643.1:n.475A>C (MMP1)
ENST00000315274.6:c.1275A>C (MMP1)	ENSP00000322788.6:p.Lys425Asn
ENST00000371455.7:n.325-7296T>G (WTAPP1)
ENST00000525739.6:n.390-2417T>G (WTAPP1)
ENST00000544704.1:n.344+6664T>G (WTAPP1)
NM_001145938.1:c.1077A>C (MMP1)	NP_001139410.1:p.Lys359Asn
NM_002421.3:c.1275A>C (MMP1)	NP_002412.1:p.Lys425Asn
NR_038390.1:n.390-2417T>G (WTAPP1)
NM_002421.4:c.1275A>C (MMP1) MANE Select	NP_002412.1:p.Lys425Asn
NM_001145938.2:c.1077A>C (MMP1)	NP_001139410.1:p.Lys359Asn