Canonical Allele Identifier: CA382226787

Gene: MMP1 WTAPP1

Linked Data

• MyVariant Identifiers: chr11:g.102661493A>G (hg19) ; chr11:g.102790762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790762A>G , CM000673.2:g.102790762A>G	GRCh38
NC_000011.9:g.102661493A>G , CM000673.1:g.102661493A>G	GRCh37
NC_000011.8:g.102166703A>G	NCBI36
NG_011740.1:g.12474T>C
NG_011740.2:g.12474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1241T>C (MMP1) MANE Select	ENSP00000322788.6:p.Met414Thr
ENST00000680179.1:n.419T>C (MMP1)
ENST00000681445.1:n.415T>C (MMP1)
ENST00000681643.1:n.441T>C (MMP1)
ENST00000315274.6:c.1241T>C (MMP1)	ENSP00000322788.6:p.Met414Thr
ENST00000371455.7:n.325-7262A>G (WTAPP1)
ENST00000525739.6:n.390-2383A>G (WTAPP1)
ENST00000544704.1:n.344+6698A>G (WTAPP1)
NM_001145938.1:c.1043T>C (MMP1)	NP_001139410.1:p.Met348Thr
NM_002421.3:c.1241T>C (MMP1)	NP_002412.1:p.Met414Thr
NR_038390.1:n.390-2383A>G (WTAPP1)
NM_002421.4:c.1241T>C (MMP1) MANE Select	NP_002412.1:p.Met414Thr
NM_001145938.2:c.1043T>C (MMP1)	NP_001139410.1:p.Met348Thr