Canonical Allele Identifier: CA380702311

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57611726-C-G
• MyVariant Identifiers: chr11:g.57379199C>G (hg19) ; chr11:g.57611726C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611726C>G , CM000673.2:g.57611726C>G	GRCh38
NC_000011.9:g.57379199C>G , CM000673.1:g.57379199C>G	GRCh37
NC_000011.8:g.57135775C>G	NCBI36
NG_009625.1:g.19173C>G , LRG_105:g.19173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1039C>G MANE Select	ENSP00000278407.4:p.Leu347Val
ENST00000528996.2:c.59C>G	ENSP00000431226.2:p.Ala20Gly
ENST00000531605.2:c.*815C>G	ENSP00000503752.1:n.*815C>G
ENST00000619430.2:c.835C>G	ENSP00000478572.2:p.Leu279Val
ENST00000676670.1:c.1039C>G	ENSP00000504807.1:p.Leu347Val
ENST00000676741.1:n.2121C>G
ENST00000677624.1:c.*459C>G	ENSP00000503979.1:n.*459C>G
ENST00000677625.1:c.1030-45C>G	ENSP00000502857.1:n.1030-45C>G
ENST00000677856.1:n.1292C>G
ENST00000677915.1:c.695C>G	ENSP00000503118.1:p.Ala232Gly
ENST00000678533.1:c.*593C>G	ENSP00000503873.1:n.*593C>G
ENST00000678592.1:c.1128C>G	ENSP00000504424.1:p.Ser376Arg
ENST00000278407.8:c.1039C>G	ENSP00000278407.4:p.Leu347Val
ENST00000340687.10:c.1030-102C>G	ENSP00000341861.6:n.1030-102C>G
ENST00000378323.8:c.1054C>G	ENSP00000367574.4:p.Leu352Val
ENST00000378324.6:c.883C>G	ENSP00000367575.2:p.Leu295Val
ENST00000403558.1:c.1168C>G	ENSP00000384420.1:p.Leu390Val
ENST00000528996.1:c.240C>G	ENSP00000431226.1:p.Ser80Arg
ENST00000530113.1:n.496C>G
ENST00000531133.5:c.540C>G	ENSP00000435431.1:n.540C>G
ENST00000531797.5:c.*64C>G	ENSP00000432554.1:n.*64C>G
ENST00000619430.1:c.349-179C>G	ENSP00000478572.1:n.349-179C>G
NM_000062.2:c.1039C>G , LRG_105t1:c.1039C>G	NP_000053.2:p.Leu347Val
NM_001032295.1:c.1039C>G	NP_001027466.1:p.Leu347Val
NM_000062.3:c.1039C>G MANE Select	NP_000053.2:p.Leu347Val
NM_001032295.2:c.1039C>G	NP_001027466.1:p.Leu347Val