Canonical Allele Identifier: CA219257

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 68248
• ClinVar RCV Id: RCV000059086
• dbSNP Id: rs281875177
• COSMIC: COSM4568948
• MyVariant Identifiers: chr11:g.57381969T>G (hg19) ; chr11:g.57614496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614496T>G , CM000673.2:g.57614496T>G	GRCh38
NC_000011.9:g.57381969T>G , CM000673.1:g.57381969T>G	GRCh37
NC_000011.8:g.57138545T>G	NCBI36
NG_009625.1:g.21943T>G , LRG_105:g.21943T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1418T>G MANE Select	ENSP00000278407.4:p.Val473Gly
ENST00000528996.2:c.*315T>G	ENSP00000431226.2:n.*315T>G
ENST00000531605.2:c.*1194T>G	ENSP00000503752.1:n.*1194T>G
ENST00000619430.2:c.1214T>G	ENSP00000478572.2:p.Val405Gly
ENST00000676670.1:c.1418T>G	ENSP00000504807.1:p.Val473Gly
ENST00000676741.1:n.2500T>G
ENST00000677624.1:c.*838T>G	ENSP00000503979.1:n.*838T>G
ENST00000677625.1:c.1364T>G	ENSP00000502857.1:p.Val455Gly
ENST00000677856.1:n.1671T>G
ENST00000677915.1:c.*315T>G	ENSP00000503118.1:n.*315T>G
ENST00000678533.1:c.*972T>G	ENSP00000503873.1:n.*972T>G
ENST00000678592.1:c.*358T>G	ENSP00000504424.1:n.*358T>G
ENST00000278407.8:c.1418T>G	ENSP00000278407.4:p.Val473Gly
ENST00000340687.10:c.1307T>G	ENSP00000341861.6:p.Val436Gly
ENST00000378323.8:c.1433T>G	ENSP00000367574.4:p.Val478Gly
ENST00000378324.6:c.1262T>G	ENSP00000367575.2:p.Val421Gly
ENST00000403558.1:c.1547T>G	ENSP00000384420.1:p.Val516Gly
ENST00000528996.1:c.619T>G	ENSP00000431226.1:n.619T>G
ENST00000530113.1:n.875T>G
ENST00000531133.5:c.919T>G	ENSP00000435431.1:n.919T>G
ENST00000531797.5:c.*443T>G	ENSP00000432554.1:n.*443T>G
ENST00000619430.1:c.549T>G	ENSP00000478572.1:n.549T>G
NM_000062.2:c.1418T>G , LRG_105t1:c.1418T>G	NP_000053.2:p.Val473Gly
NM_001032295.1:c.1418T>G	NP_001027466.1:p.Val473Gly
NM_000062.3:c.1418T>G MANE Select	NP_000053.2:p.Val473Gly
NM_001032295.2:c.1418T>G	NP_001027466.1:p.Val473Gly