Canonical Allele Identifier: CA388931223
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843726C>A , CM000676.2:g.22843726C>A GRCh38
NC_000014.8:g.23312935C>A , CM000676.1:g.23312935C>A GRCh37
NC_000014.7:g.22382775C>A NCBI36
NG_046989.1:g.12194C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.867C>A MANE Select ENSP00000308208.6:p.Phe289Leu
ENST00000548162.2:c.867C>A ENSP00000506068.1:p.Phe289Leu
ENST00000680097.1:c.*182C>A ENSP00000506631.1:n.*182C>A
ENST00000680941.1:c.*265C>A ENSP00000506378.1:n.*265C>A
ENST00000311852.10:c.867C>A ENSP00000308208.6:p.Phe289Leu
ENST00000548162.1:n.1109C>A
NM_004995.3:c.867C>A NP_004986.1:p.Phe289Leu
NM_004995.4:c.867C>A MANE Select NP_004986.1:p.Phe289Leu