Canonical Allele Identifier: CA380702261

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2050707
• ClinVar RCV Id: RCV002922045
• gnomAD v4: 11-57611717-G-A
• MyVariant Identifiers: chr11:g.57379190G>A (hg19) ; chr11:g.57611717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611717G>A , CM000673.2:g.57611717G>A	GRCh38
NC_000011.9:g.57379190G>A , CM000673.1:g.57379190G>A	GRCh37
NC_000011.8:g.57135766G>A	NCBI36
NG_009625.1:g.19164G>A , LRG_105:g.19164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1030G>A MANE Select	ENSP00000278407.4:p.Val344Met
ENST00000528996.2:c.59-9G>A	ENSP00000431226.2:n.59-9G>A
ENST00000531605.2:c.*806G>A	ENSP00000503752.1:n.*806G>A
ENST00000619430.2:c.826G>A	ENSP00000478572.2:p.Val276Met
ENST00000676670.1:c.1030G>A	ENSP00000504807.1:p.Val344Met
ENST00000676741.1:n.2112G>A
ENST00000677624.1:c.*450G>A	ENSP00000503979.1:n.*450G>A
ENST00000677625.1:c.1030-54G>A	ENSP00000502857.1:n.1030-54G>A
ENST00000677856.1:n.1283G>A
ENST00000677915.1:c.686G>A	ENSP00000503118.1:p.Gly229Asp
ENST00000678533.1:c.*584G>A	ENSP00000503873.1:n.*584G>A
ENST00000678592.1:c.1119G>A	ENSP00000504424.1:p.Met373Ile
ENST00000278407.8:c.1030G>A	ENSP00000278407.4:p.Val344Met
ENST00000340687.10:c.1030-111G>A	ENSP00000341861.6:n.1030-111G>A
ENST00000378323.8:c.1045G>A	ENSP00000367574.4:p.Val349Met
ENST00000378324.6:c.874G>A	ENSP00000367575.2:p.Val292Met
ENST00000403558.1:c.1159G>A	ENSP00000384420.1:p.Val387Met
ENST00000528996.1:c.231G>A	ENSP00000431226.1:p.Met77Ile
ENST00000530113.1:n.487G>A
ENST00000531133.5:c.531G>A	ENSP00000435431.1:n.531G>A
ENST00000531797.5:c.*55G>A	ENSP00000432554.1:n.*55G>A
ENST00000619430.1:c.349-188G>A	ENSP00000478572.1:n.349-188G>A
NM_000062.2:c.1030G>A , LRG_105t1:c.1030G>A	NP_000053.2:p.Val344Met
NM_001032295.1:c.1030G>A	NP_001027466.1:p.Val344Met
NM_000062.3:c.1030G>A MANE Select	NP_000053.2:p.Val344Met
NM_001032295.2:c.1030G>A	NP_001027466.1:p.Val344Met