Canonical Allele Identifier: CA6008280

Gene: SERPING1

Linked Data

• dbSNP Id: rs770743959
• ExAC: 11:57381918 C / G
• gnomAD v2: 11-57381918-C-G
• gnomAD v3: 11-57614445-C-G
• gnomAD v4: 11-57614445-C-G
• MyVariant Identifiers: chr11:g.57381918C>G (hg19) ; chr11:g.57614445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614445C>G , CM000673.2:g.57614445C>G	GRCh38
NC_000011.9:g.57381918C>G , CM000673.1:g.57381918C>G	GRCh37
NC_000011.8:g.57138494C>G	NCBI36
NG_009625.1:g.21892C>G , LRG_105:g.21892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1367C>G MANE Select	ENSP00000278407.4:p.Ala456Gly
ENST00000528996.2:c.*264C>G	ENSP00000431226.2:n.*264C>G
ENST00000531605.2:c.*1143C>G	ENSP00000503752.1:n.*1143C>G
ENST00000619430.2:c.1163C>G	ENSP00000478572.2:p.Ala388Gly
ENST00000676670.1:c.1367C>G	ENSP00000504807.1:p.Ala456Gly
ENST00000676741.1:n.2449C>G
ENST00000677624.1:c.*787C>G	ENSP00000503979.1:n.*787C>G
ENST00000677625.1:c.1313C>G	ENSP00000502857.1:p.Ala438Gly
ENST00000677856.1:n.1620C>G
ENST00000677915.1:c.*264C>G	ENSP00000503118.1:n.*264C>G
ENST00000678533.1:c.*921C>G	ENSP00000503873.1:n.*921C>G
ENST00000678592.1:c.*307C>G	ENSP00000504424.1:n.*307C>G
ENST00000278407.8:c.1367C>G	ENSP00000278407.4:p.Ala456Gly
ENST00000340687.10:c.1256C>G	ENSP00000341861.6:p.Ala419Gly
ENST00000378323.8:c.1382C>G	ENSP00000367574.4:p.Ala461Gly
ENST00000378324.6:c.1211C>G	ENSP00000367575.2:p.Ala404Gly
ENST00000403558.1:c.1496C>G	ENSP00000384420.1:p.Ala499Gly
ENST00000528996.1:c.568C>G	ENSP00000431226.1:n.568C>G
ENST00000530113.1:n.824C>G
ENST00000531133.5:c.868C>G	ENSP00000435431.1:n.868C>G
ENST00000531797.5:c.*392C>G	ENSP00000432554.1:n.*392C>G
ENST00000619430.1:c.498C>G	ENSP00000478572.1:n.498C>G
NM_000062.2:c.1367C>G , LRG_105t1:c.1367C>G	NP_000053.2:p.Ala456Gly
NM_001032295.1:c.1367C>G	NP_001027466.1:p.Ala456Gly
NM_000062.3:c.1367C>G MANE Select	NP_000053.2:p.Ala456Gly
NM_001032295.2:c.1367C>G	NP_001027466.1:p.Ala456Gly