Canonical Allele Identifier: CA380690786

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 626354
• ClinVar RCV Id: RCV000768693 ; RCV001855976
• dbSNP Id: rs1565174105
• MyVariant Identifiers: chr11:g.57381971C>T (hg19) ; chr11:g.57614498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614498C>T , CM000673.2:g.57614498C>T	GRCh38
NC_000011.9:g.57381971C>T , CM000673.1:g.57381971C>T	GRCh37
NC_000011.8:g.57138547C>T	NCBI36
NG_009625.1:g.21945C>T , LRG_105:g.21945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1420C>T MANE Select	ENSP00000278407.4:p.Gln474Ter
ENST00000528996.2:c.*317C>T	ENSP00000431226.2:n.*317C>T
ENST00000531605.2:c.*1196C>T	ENSP00000503752.1:n.*1196C>T
ENST00000619430.2:c.1216C>T	ENSP00000478572.2:p.Gln406Ter
ENST00000676670.1:c.1420C>T	ENSP00000504807.1:p.Gln474Ter
ENST00000676741.1:n.2502C>T
ENST00000677624.1:c.*840C>T	ENSP00000503979.1:n.*840C>T
ENST00000677625.1:c.1366C>T	ENSP00000502857.1:p.Gln456Ter
ENST00000677856.1:n.1673C>T
ENST00000677915.1:c.*317C>T	ENSP00000503118.1:n.*317C>T
ENST00000678533.1:c.*974C>T	ENSP00000503873.1:n.*974C>T
ENST00000678592.1:c.*360C>T	ENSP00000504424.1:n.*360C>T
ENST00000278407.8:c.1420C>T	ENSP00000278407.4:p.Gln474Ter
ENST00000340687.10:c.1309C>T	ENSP00000341861.6:p.Gln437Ter
ENST00000378323.8:c.1435C>T	ENSP00000367574.4:p.Gln479Ter
ENST00000378324.6:c.1264C>T	ENSP00000367575.2:p.Gln422Ter
ENST00000403558.1:c.1549C>T	ENSP00000384420.1:p.Gln517Ter
ENST00000528996.1:c.621C>T	ENSP00000431226.1:n.621C>T
ENST00000530113.1:n.877C>T
ENST00000531133.5:c.921C>T	ENSP00000435431.1:n.921C>T
ENST00000531797.5:c.*445C>T	ENSP00000432554.1:n.*445C>T
ENST00000619430.1:c.551C>T	ENSP00000478572.1:n.551C>T
NM_000062.2:c.1420C>T , LRG_105t1:c.1420C>T	NP_000053.2:p.Gln474Ter
NM_001032295.1:c.1420C>T	NP_001027466.1:p.Gln474Ter
NM_000062.3:c.1420C>T MANE Select	NP_000053.2:p.Gln474Ter
NM_001032295.2:c.1420C>T	NP_001027466.1:p.Gln474Ter