Canonical Allele Identifier: CA382226450

Gene: MMP1 WTAPP1

Linked Data

• MyVariant Identifiers: chr11:g.102661167G>T (hg19) ; chr11:g.102790436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790436G>T , CM000673.2:g.102790436G>T	GRCh38
NC_000011.9:g.102661167G>T , CM000673.1:g.102661167G>T	GRCh37
NC_000011.8:g.102166377G>T	NCBI36
NG_011740.1:g.12800C>A
NG_011740.2:g.12800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1386C>A (MMP1) MANE Select	ENSP00000322788.6:p.Ser462Arg
ENST00000680179.1:n.564C>A (MMP1)
ENST00000681445.1:n.560C>A (MMP1)
ENST00000681643.1:n.586C>A (MMP1)
ENST00000315274.6:c.1386C>A (MMP1)	ENSP00000322788.6:p.Ser462Arg
ENST00000371455.7:n.325-7588G>T (WTAPP1)
ENST00000525739.6:n.390-2709G>T (WTAPP1)
ENST00000544704.1:n.344+6372G>T (WTAPP1)
NM_001145938.1:c.1188C>A (MMP1)	NP_001139410.1:p.Ser396Arg
NM_002421.3:c.1386C>A (MMP1)	NP_002412.1:p.Ser462Arg
NR_038390.1:n.390-2709G>T (WTAPP1)
NM_002421.4:c.1386C>A (MMP1) MANE Select	NP_002412.1:p.Ser462Arg
NM_001145938.2:c.1188C>A (MMP1)	NP_001139410.1:p.Ser396Arg