Canonical Allele Identifier: CA6008294

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 806677
• ClinVar RCV Id: RCV000994636
• dbSNP Id: rs143997164
• ExAC: 11:57382004 C / G
• gnomAD v2: 11-57382004-C-G
• gnomAD v3: 11-57614531-C-G
• gnomAD v4: 11-57614531-C-G
• MyVariant Identifiers: chr11:g.57382004C>G (hg19) ; chr11:g.57614531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614531C>G , CM000673.2:g.57614531C>G	GRCh38
NC_000011.9:g.57382004C>G , CM000673.1:g.57382004C>G	GRCh37
NC_000011.8:g.57138580C>G	NCBI36
NG_009625.1:g.21978C>G , LRG_105:g.21978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1453C>G MANE Select	ENSP00000278407.4:p.Gln485Glu
ENST00000528996.2:c.*350C>G	ENSP00000431226.2:n.*350C>G
ENST00000531605.2:c.*1229C>G	ENSP00000503752.1:n.*1229C>G
ENST00000619430.2:c.1249C>G	ENSP00000478572.2:p.Gln417Glu
ENST00000676670.1:c.1453C>G	ENSP00000504807.1:p.Gln485Glu
ENST00000676741.1:n.2535C>G
ENST00000677624.1:c.*873C>G	ENSP00000503979.1:n.*873C>G
ENST00000677625.1:c.1399C>G	ENSP00000502857.1:p.Gln467Glu
ENST00000677856.1:n.1706C>G
ENST00000677915.1:c.*350C>G	ENSP00000503118.1:n.*350C>G
ENST00000678533.1:c.*1007C>G	ENSP00000503873.1:n.*1007C>G
ENST00000678592.1:c.*393C>G	ENSP00000504424.1:n.*393C>G
ENST00000278407.8:c.1453C>G	ENSP00000278407.4:p.Gln485Glu
ENST00000340687.10:c.1342C>G	ENSP00000341861.6:p.Gln448Glu
ENST00000378323.8:c.1468C>G	ENSP00000367574.4:p.Gln490Glu
ENST00000378324.6:c.1297C>G	ENSP00000367575.2:p.Gln433Glu
ENST00000403558.1:c.1582C>G	ENSP00000384420.1:p.Gln528Glu
ENST00000528996.1:c.654C>G	ENSP00000431226.1:n.654C>G
ENST00000531133.5:c.954C>G	ENSP00000435431.1:n.954C>G
ENST00000531797.5:c.*478C>G	ENSP00000432554.1:n.*478C>G
ENST00000619430.1:c.584C>G	ENSP00000478572.1:n.584C>G
NM_000062.2:c.1453C>G , LRG_105t1:c.1453C>G	NP_000053.2:p.Gln485Glu
NM_001032295.1:c.1453C>G	NP_001027466.1:p.Gln485Glu
NM_000062.3:c.1453C>G MANE Select	NP_000053.2:p.Gln485Glu
NM_001032295.2:c.1453C>G	NP_001027466.1:p.Gln485Glu