Canonical Allele Identifier: CA380690756

Gene: SERPING1

Linked Data

• dbSNP Id: rs1191880919
• gnomAD v2: 11-57381957-T-C
• gnomAD v4: 11-57614484-T-C
• MyVariant Identifiers: chr11:g.57381957T>C (hg19) ; chr11:g.57614484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614484T>C , CM000673.2:g.57614484T>C	GRCh38
NC_000011.9:g.57381957T>C , CM000673.1:g.57381957T>C	GRCh37
NC_000011.8:g.57138533T>C	NCBI36
NG_009625.1:g.21931T>C , LRG_105:g.21931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1406T>C MANE Select	ENSP00000278407.4:p.Leu469Pro
ENST00000528996.2:c.*303T>C	ENSP00000431226.2:n.*303T>C
ENST00000531605.2:c.*1182T>C	ENSP00000503752.1:n.*1182T>C
ENST00000619430.2:c.1202T>C	ENSP00000478572.2:p.Leu401Pro
ENST00000676670.1:c.1406T>C	ENSP00000504807.1:p.Leu469Pro
ENST00000676741.1:n.2488T>C
ENST00000677624.1:c.*826T>C	ENSP00000503979.1:n.*826T>C
ENST00000677625.1:c.1352T>C	ENSP00000502857.1:p.Leu451Pro
ENST00000677856.1:n.1659T>C
ENST00000677915.1:c.*303T>C	ENSP00000503118.1:n.*303T>C
ENST00000678533.1:c.*960T>C	ENSP00000503873.1:n.*960T>C
ENST00000678592.1:c.*346T>C	ENSP00000504424.1:n.*346T>C
ENST00000278407.8:c.1406T>C	ENSP00000278407.4:p.Leu469Pro
ENST00000340687.10:c.1295T>C	ENSP00000341861.6:p.Leu432Pro
ENST00000378323.8:c.1421T>C	ENSP00000367574.4:p.Leu474Pro
ENST00000378324.6:c.1250T>C	ENSP00000367575.2:p.Leu417Pro
ENST00000403558.1:c.1535T>C	ENSP00000384420.1:p.Leu512Pro
ENST00000528996.1:c.607T>C	ENSP00000431226.1:n.607T>C
ENST00000530113.1:n.863T>C
ENST00000531133.5:c.907T>C	ENSP00000435431.1:n.907T>C
ENST00000531797.5:c.*431T>C	ENSP00000432554.1:n.*431T>C
ENST00000619430.1:c.537T>C	ENSP00000478572.1:n.537T>C
NM_000062.2:c.1406T>C , LRG_105t1:c.1406T>C	NP_000053.2:p.Leu469Pro
NM_001032295.1:c.1406T>C	NP_001027466.1:p.Leu469Pro
NM_000062.3:c.1406T>C MANE Select	NP_000053.2:p.Leu469Pro
NM_001032295.2:c.1406T>C	NP_001027466.1:p.Leu469Pro