Canonical Allele Identifier: CA380690799

Gene: SERPING1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614503G>T , CM000673.2:g.57614503G>T	GRCh38
NC_000011.9:g.57381976G>T , CM000673.1:g.57381976G>T	GRCh37
NC_000011.8:g.57138552G>T	NCBI36
NG_009625.1:g.21950G>T , LRG_105:g.21950G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000062.3:c.1425G>T MANE Select	NP_000053.2:p.Gln475His
ENST00000278407.9:c.1425G>T MANE Select	ENSP00000278407.4:p.Gln475His
NM_000062.2:c.1425G>T , LRG_105t1:c.1425G>T	NP_000053.2:p.Gln475His
NM_001032295.1:c.1425G>T	NP_001027466.1:p.Gln475His
NM_001032295.2:c.1425G>T	NP_001027466.1:p.Gln475His
ENST00000278407.8:c.1425G>T	ENSP00000278407.4:p.Gln475His
ENST00000340687.10:c.1314G>T	ENSP00000341861.6:p.Gln438His
ENST00000378323.8:c.1440G>T	ENSP00000367574.4:p.Gln480His
ENST00000378324.6:c.1269G>T	ENSP00000367575.2:p.Gln423His
ENST00000403558.1:c.1554G>T	ENSP00000384420.1:p.Gln518His
ENST00000528996.1:c.626G>T	ENSP00000431226.1:n.626G>T
ENST00000528996.2:c.*322G>T	ENSP00000431226.2:n.*322G>T
ENST00000530113.1:n.882G>T
ENST00000531133.5:c.926G>T	ENSP00000435431.1:n.926G>T
ENST00000531605.2:c.*1201G>T	ENSP00000503752.1:n.*1201G>T
ENST00000531797.5:c.*450G>T	ENSP00000432554.1:n.*450G>T
ENST00000619430.1:c.556G>T	ENSP00000478572.1:n.556G>T
ENST00000619430.2:c.1221G>T	ENSP00000478572.2:p.Gln407His
ENST00000676670.1:c.1425G>T	ENSP00000504807.1:p.Gln475His
ENST00000676741.1:n.2507G>T
ENST00000677624.1:c.*845G>T	ENSP00000503979.1:n.*845G>T
ENST00000677625.1:c.1371G>T	ENSP00000502857.1:p.Gln457His
ENST00000677856.1:n.1678G>T
ENST00000677915.1:c.*322G>T	ENSP00000503118.1:n.*322G>T
ENST00000678533.1:c.*979G>T	ENSP00000503873.1:n.*979G>T
ENST00000678592.1:c.*365G>T	ENSP00000504424.1:n.*365G>T