Canonical Allele Identifier: CA6007942
Gene: SERPING1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.57598250T>C
GRCh37 chr11:g.57365723T>C
Revel Score:
ENST00000457869 0.155
ENST00000403558 0.155
gnomAD v2:
11:57365723 T / C
gnomAD v3:
11:57598250 T / C
gnomAD v4:
chr11-57598250-T-C
Joint Max Group AF 0.04870402 (NFE)
Genomes Max Group AF 0.04699486 (NFE)
Exomes Max Group AF 0.04873583 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57598250T>C , CM000673.2:g.57598250T>C GRCh38
NC_000011.9:g.57365723T>C , CM000673.1:g.57365723T>C GRCh37
NC_000011.8:g.57122299T>C NCBI36
NG_009625.1:g.5697T>C , LRG_105:g.5697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.-21T>C MANE Select ENSP00000278407.4:n.-21T>C
ENST00000528996.2:c.-21T>C ENSP00000431226.2:n.-21T>C
ENST00000531605.2:c.-21T>C ENSP00000503752.1:n.-21T>C
ENST00000619430.2:c.-21T>C ENSP00000478572.2:n.-21T>C
ENST00000676670.1:c.-21T>C ENSP00000504807.1:n.-21T>C
ENST00000677275.1:n.38+528T>C
ENST00000677624.1:c.-21T>C ENSP00000503979.1:n.-21T>C
ENST00000677625.1:c.-21T>C ENSP00000502857.1:n.-21T>C
ENST00000677856.1:n.39T>C
ENST00000677915.1:c.-21T>C ENSP00000503118.1:n.-21T>C
ENST00000678533.1:c.-21T>C ENSP00000503873.1:n.-21T>C
ENST00000678592.1:c.-21T>C ENSP00000504424.1:n.-21T>C
ENST00000278407.8:c.-21T>C ENSP00000278407.4:n.-21T>C
ENST00000340687.10:c.-21T>C ENSP00000341861.6:n.-21T>C
ENST00000378323.8:c.-21T>C ENSP00000367574.4:n.-21T>C
ENST00000378324.6:c.-106+528T>C ENSP00000367575.2:n.-106+528T>C
ENST00000403558.1:c.82T>C ENSP00000384420.1:p.Ser28Pro
ENST00000405496.5:c.-21T>C ENSP00000384561.1:n.-21T>C
ENST00000457869.1:c.82T>C ENSP00000399746.1:p.Ser28Pro
ENST00000531797.5:c.-21T>C ENSP00000432554.1:n.-21T>C
NM_000062.2:c.-21T>C , LRG_105t1:c.-21T>C NP_000053.2:n.-21T>C
NM_001032295.1:c.-21T>C NP_001027466.1:n.-21T>C
NM_000062.3:c.-21T>C MANE Select NP_000053.2:n.-21T>C
NM_001032295.2:c.-21T>C NP_001027466.1:n.-21T>C
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