Canonical Allele Identifier: CA223057240

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2415828
• ClinVar RCV Id: RCV003105040
• dbSNP Id: rs989642546
• gnomAD v2: 11-57379238-C-T
• gnomAD v3: 11-57611765-C-T
• gnomAD v4: 11-57611765-C-T
• MyVariant Identifiers: chr11:g.57379238C>T (hg19) ; chr11:g.57611765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611765C>T , CM000673.2:g.57611765C>T	GRCh38
NC_000011.9:g.57379238C>T , CM000673.1:g.57379238C>T	GRCh37
NC_000011.8:g.57135814C>T	NCBI36
NG_009625.1:g.19212C>T , LRG_105:g.19212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1078C>T MANE Select	ENSP00000278407.4:p.Pro360Ser
ENST00000528996.2:c.98C>T	ENSP00000431226.2:p.Thr33Ile
ENST00000531605.2:c.*854C>T	ENSP00000503752.1:n.*854C>T
ENST00000619430.2:c.874C>T	ENSP00000478572.2:p.Pro292Ser
ENST00000676670.1:c.1078C>T	ENSP00000504807.1:p.Pro360Ser
ENST00000676741.1:n.2160C>T
ENST00000677624.1:c.*498C>T	ENSP00000503979.1:n.*498C>T
ENST00000677625.1:c.1030-6C>T	ENSP00000502857.1:n.1030-6C>T
ENST00000677856.1:n.1331C>T
ENST00000677915.1:c.734C>T	ENSP00000503118.1:p.Thr245Ile
ENST00000678533.1:c.*632C>T	ENSP00000503873.1:n.*632C>T
ENST00000678592.1:c.*18C>T	ENSP00000504424.1:n.*18C>T
ENST00000278407.8:c.1078C>T	ENSP00000278407.4:p.Pro360Ser
ENST00000340687.10:c.1030-63C>T	ENSP00000341861.6:n.1030-63C>T
ENST00000378323.8:c.1093C>T	ENSP00000367574.4:p.Pro365Ser
ENST00000378324.6:c.922C>T	ENSP00000367575.2:p.Pro308Ser
ENST00000403558.1:c.1207C>T	ENSP00000384420.1:p.Pro403Ser
ENST00000528996.1:c.279C>T	ENSP00000431226.1:n.279C>T
ENST00000530113.1:n.535C>T
ENST00000531133.5:c.579C>T	ENSP00000435431.1:n.579C>T
ENST00000531797.5:c.*103C>T	ENSP00000432554.1:n.*103C>T
ENST00000619430.1:c.349-140C>T	ENSP00000478572.1:n.349-140C>T
NM_000062.2:c.1078C>T , LRG_105t1:c.1078C>T	NP_000053.2:p.Pro360Ser
NM_001032295.1:c.1078C>T	NP_001027466.1:p.Pro360Ser
NM_000062.3:c.1078C>T MANE Select	NP_000053.2:p.Pro360Ser
NM_001032295.2:c.1078C>T	NP_001027466.1:p.Pro360Ser