Canonical Allele Identifier: CA410319968
Community Standard Title: NM_005656.4(TMPRSS2):c.478G>T (p.Val160Leu)
Gene: TMPRSS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41480570C>A , CM000683.2:g.41480570C>A GRCh38
NC_000021.8:g.42852497C>A , CM000683.1:g.42852497C>A GRCh37
NC_000021.7:g.41774367C>A NCBI36
NG_047085.1:g.32589G>T
NG_047085.2:g.55547G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005656.4:c.478G>T MANE Select NP_005647.3:p.Val160Leu
ENST00000332149.10:c.478G>T MANE Select ENSP00000330330.5:p.Val160Leu
NM_001135099.1:c.589G>T NP_001128571.1:p.Val197Leu
NM_001382720.1:c.478G>T NP_001369649.1:p.Val160Leu
NM_005656.3:c.478G>T NP_005647.3:p.Val160Leu
ENST00000332149.9:c.478G>T ENSP00000330330.5:p.Val160Leu
ENST00000398585.7:c.589G>T ENSP00000381588.3:p.Val197Leu
ENST00000424093.5:c.358G>T ENSP00000397846.1:p.Val120Leu
ENST00000424093.6:c.358G>T ENSP00000397846.2:p.Val120Leu
ENST00000454499.5:c.478G>T ENSP00000389006.1:p.Val160Leu
ENST00000454499.6:c.478G>T ENSP00000389006.2:p.Val160Leu
ENST00000458356.5:c.478G>T ENSP00000391216.1:p.Val160Leu
ENST00000458356.6:c.478G>T ENSP00000391216.1:p.Val160Leu
ENST00000676973.1:c.478G>T ENSP00000504705.1:p.Val160Leu
ENST00000677680.1:c.478G>T ENSP00000504526.1:p.Val160Leu
ENST00000678171.1:c.478G>T ENSP00000503877.1:p.Val160Leu
ENST00000678348.1:c.478G>T ENSP00000503556.1:p.Val160Leu
ENST00000678617.1:n.717G>T
ENST00000678743.1:c.154G>T ENSP00000503377.1:p.Val52Leu
ENST00000678959.1:c.*210G>T ENSP00000503114.1:n.*210G>T
ENST00000679016.1:c.271G>T ENSP00000504610.1:p.Val91Leu
ENST00000679054.1:c.478G>T ENSP00000502928.1:p.Val160Leu
ENST00000679181.1:c.478G>T ENSP00000504238.1:p.Val160Leu
ENST00000679263.1:c.637G>T ENSP00000504602.1:p.Val213Leu
XM_005261043.2:c.358G>T XP_005261100.1:p.Val120Leu
XM_011529731.1:c.478G>T XP_011528033.1:p.Val160Leu
XM_011529732.1:c.478G>T XP_011528034.1:p.Val160Leu
XM_011529733.1:c.154G>T XP_011528035.1:p.Val52Leu