Canonical Allele Identifier: CA6008287

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2191784
• ClinVar RCV Id: RCV002632992
• dbSNP Id: rs138394087
• ExAC: 11:57381955 G / C
• gnomAD v2: 11-57381955-G-C
• gnomAD v3: 11-57614482-G-C
• gnomAD v4: 11-57614482-G-C
• MyVariant Identifiers: chr11:g.57381955G>C (hg19) ; chr11:g.57614482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614482G>C , CM000673.2:g.57614482G>C	GRCh38
NC_000011.9:g.57381955G>C , CM000673.1:g.57381955G>C	GRCh37
NC_000011.8:g.57138531G>C	NCBI36
NG_009625.1:g.21929G>C , LRG_105:g.21929G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1404G>C MANE Select	ENSP00000278407.4:p.Leu468=
ENST00000528996.2:c.*301G>C	ENSP00000431226.2:n.*301G>C
ENST00000531605.2:c.*1180G>C	ENSP00000503752.1:n.*1180G>C
ENST00000619430.2:c.1200G>C	ENSP00000478572.2:p.Leu400=
ENST00000676670.1:c.1404G>C	ENSP00000504807.1:p.Leu468=
ENST00000676741.1:n.2486G>C
ENST00000677624.1:c.*824G>C	ENSP00000503979.1:n.*824G>C
ENST00000677625.1:c.1350G>C	ENSP00000502857.1:p.Leu450=
ENST00000677856.1:n.1657G>C
ENST00000677915.1:c.*301G>C	ENSP00000503118.1:n.*301G>C
ENST00000678533.1:c.*958G>C	ENSP00000503873.1:n.*958G>C
ENST00000678592.1:c.*344G>C	ENSP00000504424.1:n.*344G>C
ENST00000278407.8:c.1404G>C	ENSP00000278407.4:p.Leu468=
ENST00000340687.10:c.1293G>C	ENSP00000341861.6:p.Leu431=
ENST00000378323.8:c.1419G>C	ENSP00000367574.4:p.Leu473=
ENST00000378324.6:c.1248G>C	ENSP00000367575.2:p.Leu416=
ENST00000403558.1:c.1533G>C	ENSP00000384420.1:p.Leu511=
ENST00000528996.1:c.605G>C	ENSP00000431226.1:n.605G>C
ENST00000530113.1:n.861G>C
ENST00000531133.5:c.905G>C	ENSP00000435431.1:n.905G>C
ENST00000531797.5:c.*429G>C	ENSP00000432554.1:n.*429G>C
ENST00000619430.1:c.535G>C	ENSP00000478572.1:n.535G>C
NM_000062.2:c.1404G>C , LRG_105t1:c.1404G>C	NP_000053.2:p.Leu468=
NM_001032295.1:c.1404G>C	NP_001027466.1:p.Leu468=
NM_000062.3:c.1404G>C MANE Select	NP_000053.2:p.Leu468=
NM_001032295.2:c.1404G>C	NP_001027466.1:p.Leu468=