Canonical Allele Identifier: CA380699336

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 1466520
• ClinVar RCV Id: RCV001966097
• dbSNP Id: rs1590826505
• MyVariant Identifiers: chr11:g.57373605A>G (hg19) ; chr11:g.57606132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606132A>G , CM000673.2:g.57606132A>G	GRCh38
NC_000011.9:g.57373605A>G , CM000673.1:g.57373605A>G	GRCh37
NC_000011.8:g.57130181A>G	NCBI36
NG_009625.1:g.13579A>G , LRG_105:g.13579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.808A>G MANE Select	ENSP00000278407.4:p.Thr270Ala
ENST00000528996.2:c.59-5594A>G	ENSP00000431226.2:n.59-5594A>G
ENST00000531605.2:c.*584A>G	ENSP00000503752.1:n.*584A>G
ENST00000619430.2:c.686-276A>G	ENSP00000478572.2:n.686-276A>G
ENST00000676670.1:c.808A>G	ENSP00000504807.1:p.Thr270Ala
ENST00000676741.1:n.1890A>G
ENST00000677624.1:c.*228A>G	ENSP00000503979.1:n.*228A>G
ENST00000677625.1:c.808A>G	ENSP00000502857.1:p.Thr270Ala
ENST00000677856.1:n.867A>G
ENST00000677915.1:c.685+3963A>G	ENSP00000503118.1:n.685+3963A>G
ENST00000678533.1:c.*362A>G	ENSP00000503873.1:n.*362A>G
ENST00000678592.1:c.808A>G	ENSP00000504424.1:p.Thr270Ala
ENST00000278407.8:c.808A>G	ENSP00000278407.4:p.Thr270Ala
ENST00000340687.10:c.808A>G	ENSP00000341861.6:p.Thr270Ala
ENST00000378323.8:c.823A>G	ENSP00000367574.4:p.Thr275Ala
ENST00000378324.6:c.652A>G	ENSP00000367575.2:p.Thr218Ala
ENST00000403558.1:c.910A>G	ENSP00000384420.1:p.Thr304Ala
ENST00000531133.5:c.309A>G	ENSP00000435431.1:n.309A>G
ENST00000531797.5:c.*54+3963A>G	ENSP00000432554.1:n.*54+3963A>G
ENST00000619430.1:c.349-5773A>G	ENSP00000478572.1:n.349-5773A>G
NM_000062.2:c.808A>G , LRG_105t1:c.808A>G	NP_000053.2:p.Thr270Ala
NM_001032295.1:c.808A>G	NP_001027466.1:p.Thr270Ala
NM_000062.3:c.808A>G MANE Select	NP_000053.2:p.Thr270Ala
NM_001032295.2:c.808A>G	NP_001027466.1:p.Thr270Ala