Canonical Allele Identifier: CA6008131

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2868738
• ClinVar RCV Id: RCV003698130
• dbSNP Id: rs766124386
• ExAC: 11:57373656 C / T
• gnomAD v2: 11-57373656-C-T
• gnomAD v3: 11-57606183-C-T
• gnomAD v4: 11-57606183-C-T
• MyVariant Identifiers: chr11:g.57373656C>T (hg19) ; chr11:g.57606183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606183C>T , CM000673.2:g.57606183C>T	GRCh38
NC_000011.9:g.57373656C>T , CM000673.1:g.57373656C>T	GRCh37
NC_000011.8:g.57130232C>T	NCBI36
NG_009625.1:g.13630C>T , LRG_105:g.13630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.859C>T MANE Select	ENSP00000278407.4:p.Leu287Phe
ENST00000528996.2:c.59-5543C>T	ENSP00000431226.2:n.59-5543C>T
ENST00000531605.2:c.*635C>T	ENSP00000503752.1:n.*635C>T
ENST00000619430.2:c.686-225C>T	ENSP00000478572.2:n.686-225C>T
ENST00000676670.1:c.859C>T	ENSP00000504807.1:p.Leu287Phe
ENST00000676741.1:n.1941C>T
ENST00000677624.1:c.*279C>T	ENSP00000503979.1:n.*279C>T
ENST00000677625.1:c.859C>T	ENSP00000502857.1:p.Leu287Phe
ENST00000677856.1:n.918C>T
ENST00000677915.1:c.685+4014C>T	ENSP00000503118.1:n.685+4014C>T
ENST00000678533.1:c.*413C>T	ENSP00000503873.1:n.*413C>T
ENST00000678592.1:c.859C>T	ENSP00000504424.1:p.Leu287Phe
ENST00000278407.8:c.859C>T	ENSP00000278407.4:p.Leu287Phe
ENST00000340687.10:c.859C>T	ENSP00000341861.6:p.Leu287Phe
ENST00000378323.8:c.874C>T	ENSP00000367574.4:p.Leu292Phe
ENST00000378324.6:c.703C>T	ENSP00000367575.2:p.Leu235Phe
ENST00000403558.1:c.961C>T	ENSP00000384420.1:p.Leu321Phe
ENST00000531133.5:c.360C>T	ENSP00000435431.1:n.360C>T
ENST00000531797.5:c.*54+4014C>T	ENSP00000432554.1:n.*54+4014C>T
ENST00000619430.1:c.349-5722C>T	ENSP00000478572.1:n.349-5722C>T
NM_000062.2:c.859C>T , LRG_105t1:c.859C>T	NP_000053.2:p.Leu287Phe
NM_001032295.1:c.859C>T	NP_001027466.1:p.Leu287Phe
NM_000062.3:c.859C>T MANE Select	NP_000053.2:p.Leu287Phe
NM_001032295.2:c.859C>T	NP_001027466.1:p.Leu287Phe