Canonical Allele Identifier: CA380695176

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2100166
• ClinVar RCV Id: RCV003014272
• MyVariant Identifiers: chr11:g.57367648G>T (hg19) ; chr11:g.57600175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600175G>T , CM000673.2:g.57600175G>T	GRCh38
NC_000011.9:g.57367648G>T , CM000673.1:g.57367648G>T	GRCh37
NC_000011.8:g.57124224G>T	NCBI36
NG_009625.1:g.7622G>T , LRG_105:g.7622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.348G>T MANE Select	ENSP00000278407.4:p.Gln116His
ENST00000528996.2:c.58+1847G>T	ENSP00000431226.2:n.58+1847G>T
ENST00000531605.2:c.51+1854G>T	ENSP00000503752.1:n.51+1854G>T
ENST00000619430.2:c.348G>T	ENSP00000478572.2:p.Gln116His
ENST00000676670.1:c.348G>T	ENSP00000504807.1:p.Gln116His
ENST00000676741.1:n.1430G>T
ENST00000677275.1:n.335G>T
ENST00000677624.1:c.348G>T	ENSP00000503979.1:p.Gln116His
ENST00000677625.1:c.348G>T	ENSP00000502857.1:p.Gln116His
ENST00000677856.1:n.407G>T
ENST00000677915.1:c.348G>T	ENSP00000503118.1:p.Gln116His
ENST00000678533.1:c.51+1854G>T	ENSP00000503873.1:n.51+1854G>T
ENST00000678592.1:c.348G>T	ENSP00000504424.1:p.Gln116His
ENST00000278407.8:c.348G>T	ENSP00000278407.4:p.Gln116His
ENST00000340687.10:c.348G>T	ENSP00000341861.6:p.Gln116His
ENST00000378323.8:c.363G>T	ENSP00000367574.4:p.Gln121His
ENST00000378324.6:c.192G>T	ENSP00000367575.2:p.Gln64His
ENST00000403558.1:c.450G>T	ENSP00000384420.1:p.Gln150His
ENST00000405496.5:c.348G>T	ENSP00000384561.1:p.Gln116His
ENST00000531133.5:c.51+1854G>T	ENSP00000435431.1:n.51+1854G>T
ENST00000531797.5:c.51+1854G>T	ENSP00000432554.1:n.51+1854G>T
ENST00000619430.1:c.348G>T	ENSP00000478572.1:p.Gln116His
NM_000062.2:c.348G>T , LRG_105t1:c.348G>T	NP_000053.2:p.Gln116His
NM_001032295.1:c.348G>T	NP_001027466.1:p.Gln116His
NM_000062.3:c.348G>T MANE Select	NP_000053.2:p.Gln116His
NM_001032295.2:c.348G>T	NP_001027466.1:p.Gln116His