Canonical Allele Identifier: CA219249

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 68244
• ClinVar RCV Id: RCV000059080
• dbSNP Id: rs281875174
• MyVariant Identifiers: chr11:g.57381840T>A (hg19) ; chr11:g.57614367T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614367T>A , CM000673.2:g.57614367T>A	GRCh38
NC_000011.9:g.57381840T>A , CM000673.1:g.57381840T>A	GRCh37
NC_000011.8:g.57138416T>A	NCBI36
NG_009625.1:g.21814T>A , LRG_105:g.21814T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1289T>A MANE Select	ENSP00000278407.4:p.Leu430Gln
ENST00000528996.2:c.*186T>A	ENSP00000431226.2:n.*186T>A
ENST00000531605.2:c.*1065T>A	ENSP00000503752.1:n.*1065T>A
ENST00000619430.2:c.1085T>A	ENSP00000478572.2:p.Leu362Gln
ENST00000676670.1:c.1289T>A	ENSP00000504807.1:p.Leu430Gln
ENST00000676741.1:n.2371T>A
ENST00000677624.1:c.*709T>A	ENSP00000503979.1:n.*709T>A
ENST00000677625.1:c.1235T>A	ENSP00000502857.1:p.Leu412Gln
ENST00000677856.1:n.1542T>A
ENST00000677915.1:c.*186T>A	ENSP00000503118.1:n.*186T>A
ENST00000678533.1:c.*843T>A	ENSP00000503873.1:n.*843T>A
ENST00000678592.1:c.*229T>A	ENSP00000504424.1:n.*229T>A
ENST00000278407.8:c.1289T>A	ENSP00000278407.4:p.Leu430Gln
ENST00000340687.10:c.1178T>A	ENSP00000341861.6:p.Leu393Gln
ENST00000378323.8:c.1304T>A	ENSP00000367574.4:p.Leu435Gln
ENST00000378324.6:c.1133T>A	ENSP00000367575.2:p.Leu378Gln
ENST00000403558.1:c.1418T>A	ENSP00000384420.1:p.Leu473Gln
ENST00000528996.1:c.490T>A	ENSP00000431226.1:n.490T>A
ENST00000530113.1:n.746T>A
ENST00000531133.5:c.790T>A	ENSP00000435431.1:n.790T>A
ENST00000531797.5:c.*314T>A	ENSP00000432554.1:n.*314T>A
ENST00000619430.1:c.420T>A	ENSP00000478572.1:n.420T>A
NM_000062.2:c.1289T>A , LRG_105t1:c.1289T>A	NP_000053.2:p.Leu430Gln
NM_001032295.1:c.1289T>A	NP_001027466.1:p.Leu430Gln
NM_000062.3:c.1289T>A MANE Select	NP_000053.2:p.Leu430Gln
NM_001032295.2:c.1289T>A	NP_001027466.1:p.Leu430Gln