Canonical Allele Identifier: CA388930930
Gene: MMP14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843307C>A , CM000676.2:g.22843307C>A GRCh38
NC_000014.8:g.23312516C>A , CM000676.1:g.23312516C>A GRCh37
NC_000014.7:g.22382356C>A NCBI36
NG_046989.1:g.11775C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.739C>A MANE Select ENSP00000308208.6:p.Leu247Ile
ENST00000548162.2:c.739C>A ENSP00000506068.1:p.Leu247Ile
ENST00000680097.1:c.*54C>A ENSP00000506631.1:n.*54C>A
ENST00000680941.1:c.*137C>A ENSP00000506378.1:n.*137C>A
ENST00000311852.10:c.739C>A ENSP00000308208.6:p.Leu247Ile
ENST00000548162.1:n.981C>A
NM_004995.3:c.739C>A NP_004986.1:p.Leu247Ile
NM_004995.4:c.739C>A MANE Select NP_004986.1:p.Leu247Ile