Canonical Allele Identifier: CA380690826

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57614515-C-A
• MyVariant Identifiers: chr11:g.57381988C>A (hg19) ; chr11:g.57614515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614515C>A , CM000673.2:g.57614515C>A	GRCh38
NC_000011.9:g.57381988C>A , CM000673.1:g.57381988C>A	GRCh37
NC_000011.8:g.57138564C>A	NCBI36
NG_009625.1:g.21962C>A , LRG_105:g.21962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1437C>A MANE Select	ENSP00000278407.4:p.Phe479Leu
ENST00000528996.2:c.*334C>A	ENSP00000431226.2:n.*334C>A
ENST00000531605.2:c.*1213C>A	ENSP00000503752.1:n.*1213C>A
ENST00000619430.2:c.1233C>A	ENSP00000478572.2:p.Phe411Leu
ENST00000676670.1:c.1437C>A	ENSP00000504807.1:p.Phe479Leu
ENST00000676741.1:n.2519C>A
ENST00000677624.1:c.*857C>A	ENSP00000503979.1:n.*857C>A
ENST00000677625.1:c.1383C>A	ENSP00000502857.1:p.Phe461Leu
ENST00000677856.1:n.1690C>A
ENST00000677915.1:c.*334C>A	ENSP00000503118.1:n.*334C>A
ENST00000678533.1:c.*991C>A	ENSP00000503873.1:n.*991C>A
ENST00000678592.1:c.*377C>A	ENSP00000504424.1:n.*377C>A
ENST00000278407.8:c.1437C>A	ENSP00000278407.4:p.Phe479Leu
ENST00000340687.10:c.1326C>A	ENSP00000341861.6:p.Phe442Leu
ENST00000378323.8:c.1452C>A	ENSP00000367574.4:p.Phe484Leu
ENST00000378324.6:c.1281C>A	ENSP00000367575.2:p.Phe427Leu
ENST00000403558.1:c.1566C>A	ENSP00000384420.1:p.Phe522Leu
ENST00000528996.1:c.638C>A	ENSP00000431226.1:n.638C>A
ENST00000530113.1:n.894C>A
ENST00000531133.5:c.938C>A	ENSP00000435431.1:n.938C>A
ENST00000531797.5:c.*462C>A	ENSP00000432554.1:n.*462C>A
ENST00000619430.1:c.568C>A	ENSP00000478572.1:n.568C>A
NM_000062.2:c.1437C>A , LRG_105t1:c.1437C>A	NP_000053.2:p.Phe479Leu
NM_001032295.1:c.1437C>A	NP_001027466.1:p.Phe479Leu
NM_000062.3:c.1437C>A MANE Select	NP_000053.2:p.Phe479Leu
NM_001032295.2:c.1437C>A	NP_001027466.1:p.Phe479Leu