Canonical Allele Identifier: CA382226762

Gene: MMP1 WTAPP1

Linked Data

• MyVariant Identifiers: chr11:g.102661482C>G (hg19) ; chr11:g.102790751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790751C>G , CM000673.2:g.102790751C>G	GRCh38
NC_000011.9:g.102661482C>G , CM000673.1:g.102661482C>G	GRCh37
NC_000011.8:g.102166692C>G	NCBI36
NG_011740.1:g.12485G>C
NG_011740.2:g.12485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1252G>C (MMP1) MANE Select	ENSP00000322788.6:p.Asp418His
ENST00000680179.1:n.430G>C (MMP1)
ENST00000681445.1:n.426G>C (MMP1)
ENST00000681643.1:n.452G>C (MMP1)
ENST00000315274.6:c.1252G>C (MMP1)	ENSP00000322788.6:p.Asp418His
ENST00000371455.7:n.325-7273C>G (WTAPP1)
ENST00000525739.6:n.390-2394C>G (WTAPP1)
ENST00000544704.1:n.344+6687C>G (WTAPP1)
NM_001145938.1:c.1054G>C (MMP1)	NP_001139410.1:p.Asp352His
NM_002421.3:c.1252G>C (MMP1)	NP_002412.1:p.Asp418His
NR_038390.1:n.390-2394C>G (WTAPP1)
NM_002421.4:c.1252G>C (MMP1) MANE Select	NP_002412.1:p.Asp418His
NM_001145938.2:c.1054G>C (MMP1)	NP_001139410.1:p.Asp352His