Canonical Allele Identifier: CA3617398

Gene: SERPINB6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.2948569C>T , CM000668.2:g.2948569C>T	GRCh38
NC_000006.11:g.2948803C>T , CM000668.1:g.2948803C>T	GRCh37
NC_000006.10:g.2893802C>T	NCBI36
NG_027692.1:g.28597G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004568.6:c.860G>A MANE Select	NP_004559.4:p.Arg287His
ENST00000380539.7:c.860G>A MANE Select	ENSP00000369912.2:p.Arg287His
NM_001195291.2:c.872G>A	NP_001182220.2:p.Arg291His
NM_001195291.3:c.872G>A	NP_001182220.2:p.Arg291His
NM_001271822.1:c.902G>A	NP_001258751.1:p.Arg301His
NM_001271822.2:c.902G>A	NP_001258751.1:p.Arg301His
NM_001271823.1:c.917G>A	NP_001258752.1:p.Arg306His
NM_001271823.2:c.917G>A	NP_001258752.1:p.Arg306His
NM_001271824.1:c.860G>A	NP_001258753.1:p.Arg287His
NM_001271824.2:c.860G>A	NP_001258753.1:p.Arg287His
NM_001271825.1:c.860G>A	NP_001258754.1:p.Arg287His
NM_001271825.2:c.860G>A	NP_001258754.1:p.Arg287His
NM_001297699.1:c.860G>A	NP_001284628.1:p.Arg287His
NM_001297699.2:c.860G>A	NP_001284628.1:p.Arg287His
NM_001297700.1:c.860G>A	NP_001284629.1:p.Arg287His
NM_001297700.2:c.860G>A	NP_001284629.1:p.Arg287His
NM_001374515.1:c.872G>A	NP_001361444.1:p.Arg291His
NM_001374516.1:c.860G>A	NP_001361445.1:p.Arg287His
NM_001374517.1:c.728G>A	NP_001361446.1:p.Arg243His
NM_004568.5:c.860G>A	NP_004559.4:p.Arg287His
NR_164657.1:n.909G>A
ENST00000335686.9:c.860G>A	ENSP00000338358.5:p.Arg287His
ENST00000380520.5:c.860G>A	ENSP00000369891.1:p.Arg287His
ENST00000380520.6:c.860G>A	ENSP00000369891.1:p.Arg287His
ENST00000380524.5:c.860G>A	ENSP00000369896.1:p.Arg287His
ENST00000380529.5:c.860G>A	ENSP00000369901.1:p.Arg287His
ENST00000380539.5:c.860G>A	ENSP00000369912.1:p.Arg287His
ENST00000380546.7:c.860G>A	ENSP00000369919.3:p.Arg287His
ENST00000612421.2:c.917G>A	ENSP00000484343.1:p.Arg306His
ENST00000612421.3:c.917G>A	ENSP00000484343.1:p.Arg306His
ENST00000616722.3:c.872G>A	ENSP00000481398.1:p.Arg291His
ENST00000616722.4:c.872G>A	ENSP00000481398.1:p.Arg291His
ENST00000642543.1:c.728G>A	ENSP00000494161.1:p.Arg243His
ENST00000643098.1:c.860G>A	ENSP00000493936.1:p.Arg287His
ENST00000643314.1:n.2855G>A
ENST00000644178.1:c.860G>A	ENSP00000496073.1:p.Arg287His
ENST00000644388.1:c.860G>A	ENSP00000494650.1:p.Arg287His
ENST00000644693.1:c.*733G>A	ENSP00000495361.1:n.*733G>A
ENST00000644697.1:n.1721G>A
ENST00000645580.1:c.872G>A	ENSP00000495362.1:p.Arg291His
ENST00000646722.1:n.1779G>A
ENST00000647157.1:n.3194G>A
ENST00000649845.1:c.*974G>A	ENSP00000497149.1:n.*974G>A
XM_011514672.1:c.1094G>A	XP_011512974.1:p.Arg365His
XM_011514673.1:c.860G>A	XP_011512975.1:p.Arg287His
XM_011514674.1:c.860G>A	XP_011512976.1:p.Arg287His
XM_011514674.2:c.860G>A	XP_011512976.1:p.Arg287His
XM_011514675.1:c.728G>A	XP_011512977.1:p.Arg243His
XM_011514676.1:c.728G>A	XP_011512978.1:p.Arg243His
XM_011514676.2:c.728G>A	XP_011512978.1:p.Arg243His
XM_017010940.1:c.872G>A	XP_016866429.1:p.Arg291His
XM_017010941.1:c.728G>A	XP_016866430.1:p.Arg243His
XM_024446462.1:c.872G>A	XP_024302230.1:p.Arg291His
XM_024446463.1:c.872G>A	XP_024302231.1:p.Arg291His
XM_024446464.1:c.860G>A	XP_024302232.1:p.Arg287His
XM_024446465.1:c.728G>A	XP_024302233.1:p.Arg243His