Canonical Allele Identifier: CA6008293

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 254786
• ClinVar RCV Id: RCV000250736 ; RCV000616583 ; RCV001513858 ; RCV002392753
• dbSNP Id: rs4926
• ExAC: 11:57381989 G / A
• gnomAD v2: 11-57381989-G-A
• gnomAD v3: 11-57614516-G-A
• gnomAD v4: 11-57614516-G-A
• MyVariant Identifiers: chr11:g.57381989G>A (hg19) ; chr11:g.57614516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614516G>A , CM000673.2:g.57614516G>A	GRCh38
NC_000011.9:g.57381989G>A , CM000673.1:g.57381989G>A	GRCh37
NC_000011.8:g.57138565G>A	NCBI36
NG_009625.1:g.21963G>A , LRG_105:g.21963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1438G>A MANE Select	ENSP00000278407.4:p.Val480Met
ENST00000528996.2:c.*335G>A	ENSP00000431226.2:n.*335G>A
ENST00000531605.2:c.*1214G>A	ENSP00000503752.1:n.*1214G>A
ENST00000619430.2:c.1234G>A	ENSP00000478572.2:p.Val412Met
ENST00000676670.1:c.1438G>A	ENSP00000504807.1:p.Val480Met
ENST00000676741.1:n.2520G>A
ENST00000677624.1:c.*858G>A	ENSP00000503979.1:n.*858G>A
ENST00000677625.1:c.1384G>A	ENSP00000502857.1:p.Val462Met
ENST00000677856.1:n.1691G>A
ENST00000677915.1:c.*335G>A	ENSP00000503118.1:n.*335G>A
ENST00000678533.1:c.*992G>A	ENSP00000503873.1:n.*992G>A
ENST00000678592.1:c.*378G>A	ENSP00000504424.1:n.*378G>A
ENST00000278407.8:c.1438G>A	ENSP00000278407.4:p.Val480Met
ENST00000340687.10:c.1327G>A	ENSP00000341861.6:p.Val443Met
ENST00000378323.8:c.1453G>A	ENSP00000367574.4:p.Val485Met
ENST00000378324.6:c.1282G>A	ENSP00000367575.2:p.Val428Met
ENST00000403558.1:c.1567G>A	ENSP00000384420.1:p.Val523Met
ENST00000528996.1:c.639G>A	ENSP00000431226.1:n.639G>A
ENST00000530113.1:n.895G>A
ENST00000531133.5:c.939G>A	ENSP00000435431.1:n.939G>A
ENST00000531797.5:c.*463G>A	ENSP00000432554.1:n.*463G>A
ENST00000619430.1:c.569G>A	ENSP00000478572.1:n.569G>A
NM_000062.2:c.1438G>A , LRG_105t1:c.1438G>A	NP_000053.2:p.Val480Met
NM_001032295.1:c.1438G>A	NP_001027466.1:p.Val480Met
NM_000062.3:c.1438G>A MANE Select	NP_000053.2:p.Val480Met
NM_001032295.2:c.1438G>A	NP_001027466.1:p.Val480Met