Canonical Allele Identifier: CA219255

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 68247
• ClinVar RCV Id: RCV000059085
• dbSNP Id: rs121907948
• MyVariant Identifiers: chr11:g.57381948G>T (hg19) ; chr11:g.57614475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614475G>T , CM000673.2:g.57614475G>T	GRCh38
NC_000011.9:g.57381948G>T , CM000673.1:g.57381948G>T	GRCh37
NC_000011.8:g.57138524G>T	NCBI36
NG_009625.1:g.21922G>T , LRG_105:g.21922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1397G>T MANE Select	ENSP00000278407.4:p.Arg466Leu
ENST00000528996.2:c.*294G>T	ENSP00000431226.2:n.*294G>T
ENST00000531605.2:c.*1173G>T	ENSP00000503752.1:n.*1173G>T
ENST00000619430.2:c.1193G>T	ENSP00000478572.2:p.Arg398Leu
ENST00000676670.1:c.1397G>T	ENSP00000504807.1:p.Arg466Leu
ENST00000676741.1:n.2479G>T
ENST00000677624.1:c.*817G>T	ENSP00000503979.1:n.*817G>T
ENST00000677625.1:c.1343G>T	ENSP00000502857.1:p.Arg448Leu
ENST00000677856.1:n.1650G>T
ENST00000677915.1:c.*294G>T	ENSP00000503118.1:n.*294G>T
ENST00000678533.1:c.*951G>T	ENSP00000503873.1:n.*951G>T
ENST00000678592.1:c.*337G>T	ENSP00000504424.1:n.*337G>T
ENST00000278407.8:c.1397G>T	ENSP00000278407.4:p.Arg466Leu
ENST00000340687.10:c.1286G>T	ENSP00000341861.6:p.Arg429Leu
ENST00000378323.8:c.1412G>T	ENSP00000367574.4:p.Arg471Leu
ENST00000378324.6:c.1241G>T	ENSP00000367575.2:p.Arg414Leu
ENST00000403558.1:c.1526G>T	ENSP00000384420.1:p.Arg509Leu
ENST00000528996.1:c.598G>T	ENSP00000431226.1:n.598G>T
ENST00000530113.1:n.854G>T
ENST00000531133.5:c.898G>T	ENSP00000435431.1:n.898G>T
ENST00000531797.5:c.*422G>T	ENSP00000432554.1:n.*422G>T
ENST00000619430.1:c.528G>T	ENSP00000478572.1:n.528G>T
NM_000062.2:c.1397G>T , LRG_105t1:c.1397G>T	NP_000053.2:p.Arg466Leu
NM_001032295.1:c.1397G>T	NP_001027466.1:p.Arg466Leu
NM_000062.3:c.1397G>T MANE Select	NP_000053.2:p.Arg466Leu
NM_001032295.2:c.1397G>T	NP_001027466.1:p.Arg466Leu