Canonical Allele Identifier: CA6281610

Gene: TMPRSS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113690278G>A , CM000673.2:g.113690278G>A	GRCh38
NC_000011.9:g.113561000G>A , CM000673.1:g.113561000G>A	GRCh37
NC_000011.8:g.113066210G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030770.4:c.1159C>T MANE Select	NP_110397.2:p.Arg387Cys
ENST00000299882.11:c.1159C>T MANE Select	ENSP00000299882.5:p.Arg387Cys
NM_001288749.1:c.820C>T	NP_001275678.1:p.Arg274Cys
NM_001288749.2:c.820C>T	NP_001275678.1:p.Arg274Cys
NM_001288750.1:c.1027C>T	NP_001275679.1:p.Arg343Cys
NM_001288750.2:c.1027C>T	NP_001275679.1:p.Arg343Cys
NM_001288751.1:c.1132C>T	NP_001275680.1:p.Arg378Cys
NM_001288751.2:c.1132C>T	NP_001275680.1:p.Arg378Cys
NM_001288752.1:c.952C>T	NP_001275681.1:p.Arg318Cys
NM_001288752.2:c.952C>T	NP_001275681.1:p.Arg318Cys
NM_030770.3:c.1159C>T	NP_110397.2:p.Arg387Cys
NR_110046.1:n.1106C>T
NR_110046.2:n.1041C>T
NR_110047.1:n.1106C>T
NR_110047.2:n.1041C>T
ENST00000299882.9:c.1159C>T	ENSP00000299882.5:p.Arg387Cys
ENST00000536856.5:c.382C>T	ENSP00000437937.1:p.Arg128Cys
ENST00000538955.5:c.1027C>T	ENSP00000445528.1:p.Arg343Cys
ENST00000540540.5:c.382C>T	ENSP00000437761.1:p.Arg128Cys
ENST00000544476.1:c.820C>T	ENSP00000445930.1:p.Arg274Cys
ENST00000544634.5:c.952C>T	ENSP00000440783.1:p.Arg318Cys
ENST00000545265.5:n.508C>T
ENST00000545579.5:c.1132C>T	ENSP00000441104.1:p.Arg378Cys
ENST00000545579.6:c.1132C>T	ENSP00000441104.1:p.Arg378Cys
ENST00000645981.1:c.*1128C>T	ENSP00000496410.1:n.*1128C>T
XM_011543014.1:c.1150C>T	XP_011541316.1:p.Arg384Cys
XM_011543015.1:c.1159C>T	XP_011541317.1:p.Arg387Cys
XM_017018366.1:c.469C>T	XP_016873855.1:p.Arg157Cys
XM_017018367.1:c.469C>T	XP_016873856.1:p.Arg157Cys
XR_001747990.1:n.5974C>T
XR_001747991.1:n.6078C>T
XR_001747992.1:n.5871C>T