Canonical Allele Identifier: CA6008126

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 1378766
• ClinVar RCV Id: RCV001881325
• dbSNP Id: rs548701651
• ExAC: 11:57373624 G / A
• gnomAD v2: 11-57373624-G-A
• gnomAD v3: 11-57606151-G-A
• gnomAD v4: 11-57606151-G-A
• COSMIC: COSM1475569
• MyVariant Identifiers: chr11:g.57373624G>A (hg19) ; chr11:g.57606151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606151G>A , CM000673.2:g.57606151G>A	GRCh38
NC_000011.9:g.57373624G>A , CM000673.1:g.57373624G>A	GRCh37
NC_000011.8:g.57130200G>A	NCBI36
NG_009625.1:g.13598G>A , LRG_105:g.13598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.827G>A MANE Select	ENSP00000278407.4:p.Arg276Gln
ENST00000528996.2:c.59-5575G>A	ENSP00000431226.2:n.59-5575G>A
ENST00000531605.2:c.*603G>A	ENSP00000503752.1:n.*603G>A
ENST00000619430.2:c.686-257G>A	ENSP00000478572.2:n.686-257G>A
ENST00000676670.1:c.827G>A	ENSP00000504807.1:p.Arg276Gln
ENST00000676741.1:n.1909G>A
ENST00000677624.1:c.*247G>A	ENSP00000503979.1:n.*247G>A
ENST00000677625.1:c.827G>A	ENSP00000502857.1:p.Arg276Gln
ENST00000677856.1:n.886G>A
ENST00000677915.1:c.685+3982G>A	ENSP00000503118.1:n.685+3982G>A
ENST00000678533.1:c.*381G>A	ENSP00000503873.1:n.*381G>A
ENST00000678592.1:c.827G>A	ENSP00000504424.1:p.Arg276Gln
ENST00000278407.8:c.827G>A	ENSP00000278407.4:p.Arg276Gln
ENST00000340687.10:c.827G>A	ENSP00000341861.6:p.Arg276Gln
ENST00000378323.8:c.842G>A	ENSP00000367574.4:p.Arg281Gln
ENST00000378324.6:c.671G>A	ENSP00000367575.2:p.Arg224Gln
ENST00000403558.1:c.929G>A	ENSP00000384420.1:p.Arg310Gln
ENST00000531133.5:c.328G>A	ENSP00000435431.1:n.328G>A
ENST00000531797.5:c.*54+3982G>A	ENSP00000432554.1:n.*54+3982G>A
ENST00000619430.1:c.349-5754G>A	ENSP00000478572.1:n.349-5754G>A
NM_000062.2:c.827G>A , LRG_105t1:c.827G>A	NP_000053.2:p.Arg276Gln
NM_001032295.1:c.827G>A	NP_001027466.1:p.Arg276Gln
NM_000062.3:c.827G>A MANE Select	NP_000053.2:p.Arg276Gln
NM_001032295.2:c.827G>A	NP_001027466.1:p.Arg276Gln