Canonical Allele Identifier: CA380702499

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2735615
• ClinVar RCV Id: RCV003557603
• MyVariant Identifiers: chr11:g.57379230T>A (hg19) ; chr11:g.57611757T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611757T>A , CM000673.2:g.57611757T>A	GRCh38
NC_000011.9:g.57379230T>A , CM000673.1:g.57379230T>A	GRCh37
NC_000011.8:g.57135806T>A	NCBI36
NG_009625.1:g.19204T>A , LRG_105:g.19204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1070T>A MANE Select	ENSP00000278407.4:p.Ile357Asn
ENST00000528996.2:c.90T>A	ENSP00000431226.2:p.Asp30Glu
ENST00000531605.2:c.*846T>A	ENSP00000503752.1:n.*846T>A
ENST00000619430.2:c.866T>A	ENSP00000478572.2:p.Ile289Asn
ENST00000676670.1:c.1070T>A	ENSP00000504807.1:p.Ile357Asn
ENST00000676741.1:n.2152T>A
ENST00000677624.1:c.*490T>A	ENSP00000503979.1:n.*490T>A
ENST00000677625.1:c.1030-14T>A	ENSP00000502857.1:n.1030-14T>A
ENST00000677856.1:n.1323T>A
ENST00000677915.1:c.726T>A	ENSP00000503118.1:p.Asp242Glu
ENST00000678533.1:c.*624T>A	ENSP00000503873.1:n.*624T>A
ENST00000678592.1:c.*10T>A	ENSP00000504424.1:n.*10T>A
ENST00000278407.8:c.1070T>A	ENSP00000278407.4:p.Ile357Asn
ENST00000340687.10:c.1030-71T>A	ENSP00000341861.6:n.1030-71T>A
ENST00000378323.8:c.1085T>A	ENSP00000367574.4:p.Ile362Asn
ENST00000378324.6:c.914T>A	ENSP00000367575.2:p.Ile305Asn
ENST00000403558.1:c.1199T>A	ENSP00000384420.1:p.Ile400Asn
ENST00000528996.1:c.271T>A	ENSP00000431226.1:n.271T>A
ENST00000530113.1:n.527T>A
ENST00000531133.5:c.571T>A	ENSP00000435431.1:n.571T>A
ENST00000531797.5:c.*95T>A	ENSP00000432554.1:n.*95T>A
ENST00000619430.1:c.349-148T>A	ENSP00000478572.1:n.349-148T>A
NM_000062.2:c.1070T>A , LRG_105t1:c.1070T>A	NP_000053.2:p.Ile357Asn
NM_001032295.1:c.1070T>A	NP_001027466.1:p.Ile357Asn
NM_000062.3:c.1070T>A MANE Select	NP_000053.2:p.Ile357Asn
NM_001032295.2:c.1070T>A	NP_001027466.1:p.Ile357Asn