Canonical Allele Identifier: CA6250338

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs770633699
• ExAC: 11:102661483 A / C
• gnomAD v2: 11-102661483-A-C
• gnomAD v4: 11-102790752-A-C
• MyVariant Identifiers: chr11:g.102661483A>C (hg19) ; chr11:g.102790752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790752A>C , CM000673.2:g.102790752A>C	GRCh38
NC_000011.9:g.102661483A>C , CM000673.1:g.102661483A>C	GRCh37
NC_000011.8:g.102166693A>C	NCBI36
NG_011740.1:g.12484T>G
NG_011740.2:g.12484T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.1251T>G (MMP1) MANE Select	ENSP00000322788.6:p.His417Gln
ENST00000680179.1:n.429T>G (MMP1)
ENST00000681445.1:n.425T>G (MMP1)
ENST00000681643.1:n.451T>G (MMP1)
ENST00000315274.6:c.1251T>G (MMP1)	ENSP00000322788.6:p.His417Gln
ENST00000371455.7:n.325-7272A>C (WTAPP1)
ENST00000525739.6:n.390-2393A>C (WTAPP1)
ENST00000544704.1:n.344+6688A>C (WTAPP1)
NM_001145938.1:c.1053T>G (MMP1)	NP_001139410.1:p.His351Gln
NM_002421.3:c.1251T>G (MMP1)	NP_002412.1:p.His417Gln
NR_038390.1:n.390-2393A>C (WTAPP1)
NM_002421.4:c.1251T>G (MMP1) MANE Select	NP_002412.1:p.His417Gln
NM_001145938.2:c.1053T>G (MMP1)	NP_001139410.1:p.His351Gln