Canonical Allele Identifier: CA9605788
Community Standard Title: NM_005046.4(KLK7):c.725C>T (p.Thr242Ile)
Gene: KLK7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50977573G>A , CM000681.2:g.50977573G>A GRCh38
NC_000019.9:g.51480829G>A , CM000681.1:g.51480829G>A GRCh37
NC_000019.8:g.56172641G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005046.4:c.725C>T MANE Select NP_005037.1:p.Thr242Ile
ENST00000595820.6:c.725C>T MANE Select ENSP00000470538.1:p.Thr242Ile
NM_001207053.1:c.509C>T NP_001193982.1:p.Thr170Ile
NM_001207053.2:c.509C>T NP_001193982.1:p.Thr170Ile
NM_001243126.1:c.704C>T NP_001230055.1:p.Thr235Ile
NM_005046.3:c.725C>T NP_005037.1:p.Thr242Ile
NM_139277.2:c.725C>T NP_644806.1:p.Thr242Ile
ENST00000304045.6:c.*376C>T ENSP00000304791.2:n.*376C>T
ENST00000391807.5:c.725C>T ENSP00000375683.1:p.Thr242Ile
ENST00000595820.5:c.725C>T ENSP00000470538.1:p.Thr242Ile
ENST00000597707.5:c.509C>T ENSP00000469950.1:p.Thr170Ile