Canonical Allele Identifier: CA380699048

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57606090-G-A
• COSMIC: COSM6331179
• MyVariant Identifiers: chr11:g.57373563G>A (hg19) ; chr11:g.57606090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606090G>A , CM000673.2:g.57606090G>A	GRCh38
NC_000011.9:g.57373563G>A , CM000673.1:g.57373563G>A	GRCh37
NC_000011.8:g.57130139G>A	NCBI36
NG_009625.1:g.13537G>A , LRG_105:g.13537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.766G>A MANE Select	ENSP00000278407.4:p.Asp256Asn
ENST00000528996.2:c.59-5636G>A	ENSP00000431226.2:n.59-5636G>A
ENST00000531605.2:c.*542G>A	ENSP00000503752.1:n.*542G>A
ENST00000619430.2:c.686-318G>A	ENSP00000478572.2:n.686-318G>A
ENST00000676670.1:c.766G>A	ENSP00000504807.1:p.Asp256Asn
ENST00000676741.1:n.1848G>A
ENST00000677624.1:c.*186G>A	ENSP00000503979.1:n.*186G>A
ENST00000677625.1:c.766G>A	ENSP00000502857.1:p.Asp256Asn
ENST00000677856.1:n.825G>A
ENST00000677915.1:c.685+3921G>A	ENSP00000503118.1:n.685+3921G>A
ENST00000678533.1:c.*320G>A	ENSP00000503873.1:n.*320G>A
ENST00000678592.1:c.766G>A	ENSP00000504424.1:p.Asp256Asn
ENST00000278407.8:c.766G>A	ENSP00000278407.4:p.Asp256Asn
ENST00000340687.10:c.766G>A	ENSP00000341861.6:p.Asp256Asn
ENST00000378323.8:c.781G>A	ENSP00000367574.4:p.Asp261Asn
ENST00000378324.6:c.610G>A	ENSP00000367575.2:p.Asp204Asn
ENST00000403558.1:c.868G>A	ENSP00000384420.1:p.Asp290Asn
ENST00000531133.5:c.267G>A	ENSP00000435431.1:n.267G>A
ENST00000531797.5:c.*54+3921G>A	ENSP00000432554.1:n.*54+3921G>A
ENST00000619430.1:c.349-5815G>A	ENSP00000478572.1:n.349-5815G>A
NM_000062.2:c.766G>A , LRG_105t1:c.766G>A	NP_000053.2:p.Asp256Asn
NM_001032295.1:c.766G>A	NP_001027466.1:p.Asp256Asn
NM_000062.3:c.766G>A MANE Select	NP_000053.2:p.Asp256Asn
NM_001032295.2:c.766G>A	NP_001027466.1:p.Asp256Asn