Canonical Allele Identifier: CA6008222

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2002412
• ClinVar RCV Id: RCV002820388
• dbSNP Id: rs765020285
• ExAC: 11:57379246 C / A
• gnomAD v2: 11-57379246-C-A
• gnomAD v4: 11-57611773-C-A
• MyVariant Identifiers: chr11:g.57379246C>A (hg19) ; chr11:g.57611773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611773C>A , CM000673.2:g.57611773C>A	GRCh38
NC_000011.9:g.57379246C>A , CM000673.1:g.57379246C>A	GRCh37
NC_000011.8:g.57135822C>A	NCBI36
NG_009625.1:g.19220C>A , LRG_105:g.19220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1086C>A MANE Select	ENSP00000278407.4:p.Asn362Lys
ENST00000528996.2:c.106C>A	ENSP00000431226.2:p.Pro36Thr
ENST00000531605.2:c.*862C>A	ENSP00000503752.1:n.*862C>A
ENST00000619430.2:c.882C>A	ENSP00000478572.2:p.Asn294Lys
ENST00000676670.1:c.1086C>A	ENSP00000504807.1:p.Asn362Lys
ENST00000676741.1:n.2168C>A
ENST00000677624.1:c.*506C>A	ENSP00000503979.1:n.*506C>A
ENST00000677625.1:c.1032C>A	ENSP00000502857.1:p.Asn344Lys
ENST00000677856.1:n.1339C>A
ENST00000677915.1:c.742C>A	ENSP00000503118.1:p.Pro248Thr
ENST00000678533.1:c.*640C>A	ENSP00000503873.1:n.*640C>A
ENST00000678592.1:c.*26C>A	ENSP00000504424.1:n.*26C>A
ENST00000278407.8:c.1086C>A	ENSP00000278407.4:p.Asn362Lys
ENST00000340687.10:c.1030-55C>A	ENSP00000341861.6:n.1030-55C>A
ENST00000378323.8:c.1101C>A	ENSP00000367574.4:p.Asn367Lys
ENST00000378324.6:c.930C>A	ENSP00000367575.2:p.Asn310Lys
ENST00000403558.1:c.1215C>A	ENSP00000384420.1:p.Asn405Lys
ENST00000528996.1:c.287C>A	ENSP00000431226.1:n.287C>A
ENST00000530113.1:n.543C>A
ENST00000531133.5:c.587C>A	ENSP00000435431.1:n.587C>A
ENST00000531797.5:c.*111C>A	ENSP00000432554.1:n.*111C>A
ENST00000619430.1:c.349-132C>A	ENSP00000478572.1:n.349-132C>A
NM_000062.2:c.1086C>A , LRG_105t1:c.1086C>A	NP_000053.2:p.Asn362Lys
NM_001032295.1:c.1086C>A	NP_001027466.1:p.Asn362Lys
NM_000062.3:c.1086C>A MANE Select	NP_000053.2:p.Asn362Lys
NM_001032295.2:c.1086C>A	NP_001027466.1:p.Asn362Lys