Canonical Allele Identifier: CA388930955

Gene: MMP14

Linked Data

• MyVariant Identifiers: chr14:g.23312526C>T (hg19) ; chr14:g.22843317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843317C>T , CM000676.2:g.22843317C>T	GRCh38
NC_000014.8:g.23312526C>T , CM000676.1:g.23312526C>T	GRCh37
NC_000014.7:g.22382366C>T	NCBI36
NG_046989.1:g.11785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.749C>T MANE Select	ENSP00000308208.6:p.Ser250Phe
ENST00000548162.2:c.749C>T	ENSP00000506068.1:p.Ser250Phe
ENST00000680097.1:c.*64C>T	ENSP00000506631.1:n.*64C>T
ENST00000680941.1:c.*147C>T	ENSP00000506378.1:n.*147C>T
ENST00000311852.10:c.749C>T	ENSP00000308208.6:p.Ser250Phe
ENST00000548162.1:n.991C>T
NM_004995.3:c.749C>T	NP_004986.1:p.Ser250Phe
NM_004995.4:c.749C>T MANE Select	NP_004986.1:p.Ser250Phe