Canonical Allele Identifier: CA382226441

Gene: MMP1 WTAPP1

Linked Data

• MyVariant Identifiers: chr11:g.102661164C>A (hg19) ; chr11:g.102790433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790433C>A , CM000673.2:g.102790433C>A	GRCh38
NC_000011.9:g.102661164C>A , CM000673.1:g.102661164C>A	GRCh37
NC_000011.8:g.102166374C>A	NCBI36
NG_011740.1:g.12803G>T
NG_011740.2:g.12803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1389G>T (MMP1) MANE Select	ENSP00000322788.6:p.Trp463Cys
ENST00000680179.1:n.567G>T (MMP1)
ENST00000681445.1:n.563G>T (MMP1)
ENST00000681643.1:n.589G>T (MMP1)
ENST00000315274.6:c.1389G>T (MMP1)	ENSP00000322788.6:p.Trp463Cys
ENST00000371455.7:n.325-7591C>A (WTAPP1)
ENST00000525739.6:n.390-2712C>A (WTAPP1)
ENST00000544704.1:n.344+6369C>A (WTAPP1)
NM_001145938.1:c.1191G>T (MMP1)	NP_001139410.1:p.Trp397Cys
NM_002421.3:c.1389G>T (MMP1)	NP_002412.1:p.Trp463Cys
NR_038390.1:n.390-2712C>A (WTAPP1)
NM_002421.4:c.1389G>T (MMP1) MANE Select	NP_002412.1:p.Trp463Cys
NM_001145938.2:c.1191G>T (MMP1)	NP_001139410.1:p.Trp397Cys