Canonical Allele Identifier: CA382226423

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1591076155
• gnomAD v4: 11-102790426-A-C
• MyVariant Identifiers: chr11:g.102661157A>C (hg19) ; chr11:g.102790426A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790426A>C , CM000673.2:g.102790426A>C	GRCh38
NC_000011.9:g.102661157A>C , CM000673.1:g.102661157A>C	GRCh37
NC_000011.8:g.102166367A>C	NCBI36
NG_011740.1:g.12810T>G
NG_011740.2:g.12810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1396T>G (MMP1) MANE Select	ENSP00000322788.6:p.Cys466Gly
ENST00000680179.1:n.574T>G (MMP1)
ENST00000681445.1:n.570T>G (MMP1)
ENST00000681643.1:n.596T>G (MMP1)
ENST00000315274.6:c.1396T>G (MMP1)	ENSP00000322788.6:p.Cys466Gly
ENST00000371455.7:n.325-7598A>C (WTAPP1)
ENST00000525739.6:n.390-2719A>C (WTAPP1)
ENST00000544704.1:n.344+6362A>C (WTAPP1)
NM_001145938.1:c.1198T>G (MMP1)	NP_001139410.1:p.Cys400Gly
NM_002421.3:c.1396T>G (MMP1)	NP_002412.1:p.Cys466Gly
NR_038390.1:n.390-2719A>C (WTAPP1)
NM_002421.4:c.1396T>G (MMP1) MANE Select	NP_002412.1:p.Cys466Gly
NM_001145938.2:c.1198T>G (MMP1)	NP_001139410.1:p.Cys400Gly