Canonical Allele Identifier: CA362579606

Gene: SERPINB6

Linked Data

• MyVariant Identifiers: chr6:g.2948790C>A (hg19) ; chr6:g.2948556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.2948556C>A , CM000668.2:g.2948556C>A	GRCh38
NC_000006.11:g.2948790C>A , CM000668.1:g.2948790C>A	GRCh37
NC_000006.10:g.2893789C>A	NCBI36
NG_027692.1:g.28610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380520.6:c.873G>T	ENSP00000369891.1:p.Met291Ile
ENST00000380539.7:c.873G>T MANE Select	ENSP00000369912.2:p.Met291Ile
ENST00000612421.3:c.930G>T	ENSP00000484343.1:p.Met310Ile
ENST00000616722.4:c.885G>T	ENSP00000481398.1:p.Met295Ile
ENST00000642543.1:c.741G>T	ENSP00000494161.1:p.Met247Ile
ENST00000643098.1:c.873G>T	ENSP00000493936.1:p.Met291Ile
ENST00000643314.1:n.2868G>T
ENST00000644178.1:c.873G>T	ENSP00000496073.1:p.Met291Ile
ENST00000644388.1:c.873G>T	ENSP00000494650.1:p.Met291Ile
ENST00000644693.1:c.*746G>T	ENSP00000495361.1:n.*746G>T
ENST00000644697.1:n.1734G>T
ENST00000645580.1:c.885G>T	ENSP00000495362.1:p.Met295Ile
ENST00000646722.1:n.1792G>T
ENST00000647157.1:n.3207G>T
ENST00000649845.1:c.*987G>T	ENSP00000497149.1:n.*987G>T
ENST00000335686.9:c.873G>T	ENSP00000338358.5:p.Met291Ile
ENST00000380520.5:c.873G>T	ENSP00000369891.1:p.Met291Ile
ENST00000380524.5:c.873G>T	ENSP00000369896.1:p.Met291Ile
ENST00000380529.5:c.873G>T	ENSP00000369901.1:p.Met291Ile
ENST00000380539.5:c.873G>T	ENSP00000369912.1:p.Met291Ile
ENST00000380546.7:c.873G>T	ENSP00000369919.3:p.Met291Ile
ENST00000612421.2:c.930G>T	ENSP00000484343.1:p.Met310Ile
ENST00000616722.3:c.885G>T	ENSP00000481398.1:p.Met295Ile
NM_001195291.2:c.885G>T	NP_001182220.2:p.Met295Ile
NM_001271822.1:c.915G>T	NP_001258751.1:p.Met305Ile
NM_001271823.1:c.930G>T	NP_001258752.1:p.Met310Ile
NM_001271824.1:c.873G>T	NP_001258753.1:p.Met291Ile
NM_001271825.1:c.873G>T	NP_001258754.1:p.Met291Ile
NM_001297699.1:c.873G>T	NP_001284628.1:p.Met291Ile
NM_001297700.1:c.873G>T	NP_001284629.1:p.Met291Ile
NM_004568.5:c.873G>T	NP_004559.4:p.Met291Ile
XM_011514672.1:c.1107G>T	XP_011512974.1:p.Met369Ile
XM_011514673.1:c.873G>T	XP_011512975.1:p.Met291Ile
XM_011514674.1:c.873G>T	XP_011512976.1:p.Met291Ile
XM_011514675.1:c.741G>T	XP_011512977.1:p.Met247Ile
XM_011514676.1:c.741G>T	XP_011512978.1:p.Met247Ile
XM_011514674.2:c.873G>T	XP_011512976.1:p.Met291Ile
XM_011514676.2:c.741G>T	XP_011512978.1:p.Met247Ile
XM_017010940.1:c.885G>T	XP_016866429.1:p.Met295Ile
XM_017010941.1:c.741G>T	XP_016866430.1:p.Met247Ile
XM_024446462.1:c.885G>T	XP_024302230.1:p.Met295Ile
XM_024446463.1:c.885G>T	XP_024302231.1:p.Met295Ile
XM_024446464.1:c.873G>T	XP_024302232.1:p.Met291Ile
XM_024446465.1:c.741G>T	XP_024302233.1:p.Met247Ile
NM_001195291.3:c.885G>T	NP_001182220.2:p.Met295Ile
NM_001271822.2:c.915G>T	NP_001258751.1:p.Met305Ile
NM_001271823.2:c.930G>T	NP_001258752.1:p.Met310Ile
NM_001271824.2:c.873G>T	NP_001258753.1:p.Met291Ile
NM_001271825.2:c.873G>T	NP_001258754.1:p.Met291Ile
NM_001297699.2:c.873G>T	NP_001284628.1:p.Met291Ile
NM_001297700.2:c.873G>T	NP_001284629.1:p.Met291Ile
NM_001374515.1:c.885G>T	NP_001361444.1:p.Met295Ile
NM_001374516.1:c.873G>T	NP_001361445.1:p.Met291Ile
NM_001374517.1:c.741G>T	NP_001361446.1:p.Met247Ile
NM_004568.6:c.873G>T MANE Select	NP_004559.4:p.Met291Ile
NR_164657.1:n.922G>T