Canonical Allele Identifier: CA380690807

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 1438889
• ClinVar RCV Id: RCV001949095
• dbSNP Id: rs2135328208
• MyVariant Identifiers: chr11:g.57381980T>C (hg19) ; chr11:g.57614507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614507T>C , CM000673.2:g.57614507T>C	GRCh38
NC_000011.9:g.57381980T>C , CM000673.1:g.57381980T>C	GRCh37
NC_000011.8:g.57138556T>C	NCBI36
NG_009625.1:g.21954T>C , LRG_105:g.21954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1429T>C MANE Select	ENSP00000278407.4:p.Phe477Leu
ENST00000528996.2:c.*326T>C	ENSP00000431226.2:n.*326T>C
ENST00000531605.2:c.*1205T>C	ENSP00000503752.1:n.*1205T>C
ENST00000619430.2:c.1225T>C	ENSP00000478572.2:p.Phe409Leu
ENST00000676670.1:c.1429T>C	ENSP00000504807.1:p.Phe477Leu
ENST00000676741.1:n.2511T>C
ENST00000677624.1:c.*849T>C	ENSP00000503979.1:n.*849T>C
ENST00000677625.1:c.1375T>C	ENSP00000502857.1:p.Phe459Leu
ENST00000677856.1:n.1682T>C
ENST00000677915.1:c.*326T>C	ENSP00000503118.1:n.*326T>C
ENST00000678533.1:c.*983T>C	ENSP00000503873.1:n.*983T>C
ENST00000678592.1:c.*369T>C	ENSP00000504424.1:n.*369T>C
ENST00000278407.8:c.1429T>C	ENSP00000278407.4:p.Phe477Leu
ENST00000340687.10:c.1318T>C	ENSP00000341861.6:p.Phe440Leu
ENST00000378323.8:c.1444T>C	ENSP00000367574.4:p.Phe482Leu
ENST00000378324.6:c.1273T>C	ENSP00000367575.2:p.Phe425Leu
ENST00000403558.1:c.1558T>C	ENSP00000384420.1:p.Phe520Leu
ENST00000528996.1:c.630T>C	ENSP00000431226.1:n.630T>C
ENST00000530113.1:n.886T>C
ENST00000531133.5:c.930T>C	ENSP00000435431.1:n.930T>C
ENST00000531797.5:c.*454T>C	ENSP00000432554.1:n.*454T>C
ENST00000619430.1:c.560T>C	ENSP00000478572.1:n.560T>C
NM_000062.2:c.1429T>C , LRG_105t1:c.1429T>C	NP_000053.2:p.Phe477Leu
NM_001032295.1:c.1429T>C	NP_001027466.1:p.Phe477Leu
NM_000062.3:c.1429T>C MANE Select	NP_000053.2:p.Phe477Leu
NM_001032295.2:c.1429T>C	NP_001027466.1:p.Phe477Leu