Canonical Allele Identifier: CA227359762

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs993494717
• gnomAD v2: 11-102660451-G-C
• gnomAD v3: 11-102789720-G-C
• gnomAD v4: 11-102789720-G-C
• MyVariant Identifiers: chr11:g.102660451G>C (hg19) ; chr11:g.102789720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789720G>C , CM000673.2:g.102789720G>C	GRCh38
NC_000011.9:g.102660451G>C , CM000673.1:g.102660451G>C	GRCh37
NC_000011.8:g.102165661G>C	NCBI36
NG_011740.1:g.13516C>G
NG_011740.2:g.13516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680179.1:n.1280C>G (MMP1)
ENST00000681445.1:n.1276C>G (MMP1)
ENST00000681643.1:n.1302C>G (MMP1)
ENST00000371455.7:n.325-8304G>C (WTAPP1)
ENST00000525739.6:n.390-3425G>C (WTAPP1)
ENST00000544704.1:n.344+5656G>C (WTAPP1)
NR_038390.1:n.390-3425G>C (WTAPP1)