Canonical Allele Identifier: CA388930846
Gene: MMP14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23312475T>C (hg19) chr14:g.22843266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843266T>C , CM000676.2:g.22843266T>C GRCh38
NC_000014.8:g.23312475T>C , CM000676.1:g.23312475T>C GRCh37
NC_000014.7:g.22382315T>C NCBI36
NG_046989.1:g.11734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.698T>C MANE Select ENSP00000308208.6:p.Ile233Thr
ENST00000548162.2:c.698T>C ENSP00000506068.1:p.Ile233Thr
ENST00000680097.1:c.*13T>C ENSP00000506631.1:n.*13T>C
ENST00000680941.1:c.*96T>C ENSP00000506378.1:n.*96T>C
ENST00000311852.10:c.698T>C ENSP00000308208.6:p.Ile233Thr
ENST00000548162.1:n.940T>C
NM_004995.3:c.698T>C NP_004986.1:p.Ile233Thr
NM_004995.4:c.698T>C MANE Select NP_004986.1:p.Ile233Thr
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