Canonical Allele Identifier: CA388931164

Gene: MMP14

Linked Data

• MyVariant Identifiers: chr14:g.23312620A>T (hg19) ; chr14:g.22843411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843411A>T , CM000676.2:g.22843411A>T	GRCh38
NC_000014.8:g.23312620A>T , CM000676.1:g.23312620A>T	GRCh37
NC_000014.7:g.22382460A>T	NCBI36
NG_046989.1:g.11879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.843A>T MANE Select	ENSP00000308208.6:p.Gln281His
ENST00000548162.2:c.843A>T	ENSP00000506068.1:p.Gln281His
ENST00000680097.1:c.*158A>T	ENSP00000506631.1:n.*158A>T
ENST00000680941.1:c.*241A>T	ENSP00000506378.1:n.*241A>T
ENST00000311852.10:c.843A>T	ENSP00000308208.6:p.Gln281His
ENST00000548162.1:n.1085A>T
NM_004995.3:c.843A>T	NP_004986.1:p.Gln281His
NM_004995.4:c.843A>T MANE Select	NP_004986.1:p.Gln281His