Canonical Allele Identifier: CA380690933

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57614561-G-A
• MyVariant Identifiers: chr11:g.57382034G>A (hg19) ; chr11:g.57614561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614561G>A , CM000673.2:g.57614561G>A	GRCh38
NC_000011.9:g.57382034G>A , CM000673.1:g.57382034G>A	GRCh37
NC_000011.8:g.57138610G>A	NCBI36
NG_009625.1:g.22008G>A , LRG_105:g.22008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1483G>A MANE Select	ENSP00000278407.4:p.Val495Ile
ENST00000528996.2:c.*380G>A	ENSP00000431226.2:n.*380G>A
ENST00000531605.2:c.*1259G>A	ENSP00000503752.1:n.*1259G>A
ENST00000619430.2:c.1279G>A	ENSP00000478572.2:p.Val427Ile
ENST00000676670.1:c.1483G>A	ENSP00000504807.1:p.Val495Ile
ENST00000676741.1:n.2565G>A
ENST00000677624.1:c.*903G>A	ENSP00000503979.1:n.*903G>A
ENST00000677625.1:c.1429G>A	ENSP00000502857.1:p.Val477Ile
ENST00000677856.1:n.1736G>A
ENST00000677915.1:c.*380G>A	ENSP00000503118.1:n.*380G>A
ENST00000678533.1:c.*1037G>A	ENSP00000503873.1:n.*1037G>A
ENST00000678592.1:c.*423G>A	ENSP00000504424.1:n.*423G>A
ENST00000278407.8:c.1483G>A	ENSP00000278407.4:p.Val495Ile
ENST00000340687.10:c.1372G>A	ENSP00000341861.6:p.Val458Ile
ENST00000378323.8:c.1498G>A	ENSP00000367574.4:p.Val500Ile
ENST00000378324.6:c.1327G>A	ENSP00000367575.2:p.Val443Ile
ENST00000403558.1:c.1612G>A	ENSP00000384420.1:p.Val538Ile
ENST00000528996.1:c.684G>A	ENSP00000431226.1:n.684G>A
ENST00000531133.5:c.984G>A	ENSP00000435431.1:n.984G>A
ENST00000531797.5:c.*508G>A	ENSP00000432554.1:n.*508G>A
ENST00000619430.1:c.614G>A	ENSP00000478572.1:n.614G>A
NM_000062.2:c.1483G>A , LRG_105t1:c.1483G>A	NP_000053.2:p.Val495Ile
NM_001032295.1:c.1483G>A	NP_001027466.1:p.Val495Ile
NM_000062.3:c.1483G>A MANE Select	NP_000053.2:p.Val495Ile
NM_001032295.2:c.1483G>A	NP_001027466.1:p.Val495Ile