Canonical Allele Identifier: CA601245911

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1450052337
• gnomAD v2: 11-102660390-T-C
• gnomAD v3: 11-102789659-T-C
• gnomAD v4: 11-102789659-T-C
• MyVariant Identifiers: chr11:g.102660390T>C (hg19) ; chr11:g.102789659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102789659T>C , CM000673.2:g.102789659T>C	GRCh38
NC_000011.9:g.102660390T>C , CM000673.1:g.102660390T>C	GRCh37
NC_000011.8:g.102165600T>C	NCBI36
NG_011740.1:g.13577A>G
NG_011740.2:g.13577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680179.1:n.1341A>G (MMP1)
ENST00000681445.1:n.1337A>G (MMP1)
ENST00000681643.1:n.1363A>G (MMP1)
ENST00000371455.7:n.325-8365T>C (WTAPP1)
ENST00000525739.6:n.390-3486T>C (WTAPP1)
ENST00000544704.1:n.344+5595T>C (WTAPP1)
NR_038390.1:n.390-3486T>C (WTAPP1)