Canonical Allele Identifier: CA601245914

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1215028239
• gnomAD v2: 11-102660447-A-G
• gnomAD v3: 11-102789716-A-G
• gnomAD v4: 11-102789716-A-G
• MyVariant Identifiers: chr11:g.102660447A>G (hg19) ; chr11:g.102789716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789716A>G , CM000673.2:g.102789716A>G	GRCh38
NC_000011.9:g.102660447A>G , CM000673.1:g.102660447A>G	GRCh37
NC_000011.8:g.102165657A>G	NCBI36
NG_011740.1:g.13520T>C
NG_011740.2:g.13520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680179.1:n.1284T>C (MMP1)
ENST00000681445.1:n.1280T>C (MMP1)
ENST00000681643.1:n.1306T>C (MMP1)
ENST00000371455.7:n.325-8308A>G (WTAPP1)
ENST00000525739.6:n.390-3429A>G (WTAPP1)
ENST00000544704.1:n.344+5652A>G (WTAPP1)
NR_038390.1:n.390-3429A>G (WTAPP1)