Canonical Allele Identifier: CA380690964

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2119871
• ClinVar RCV Id: RCV003059098
• gnomAD v4: 11-57614575-G-C
• MyVariant Identifiers: chr11:g.57382048G>C (hg19) ; chr11:g.57614575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614575G>C , CM000673.2:g.57614575G>C	GRCh38
NC_000011.9:g.57382048G>C , CM000673.1:g.57382048G>C	GRCh37
NC_000011.8:g.57138624G>C	NCBI36
NG_009625.1:g.22022G>C , LRG_105:g.22022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1497G>C MANE Select	ENSP00000278407.4:p.Arg499Ser
ENST00000528996.2:c.*394G>C	ENSP00000431226.2:n.*394G>C
ENST00000531605.2:c.*1273G>C	ENSP00000503752.1:n.*1273G>C
ENST00000619430.2:c.1293G>C	ENSP00000478572.2:p.Arg431Ser
ENST00000676670.1:c.1497G>C	ENSP00000504807.1:p.Arg499Ser
ENST00000676741.1:n.2579G>C
ENST00000677624.1:c.*917G>C	ENSP00000503979.1:n.*917G>C
ENST00000677625.1:c.1443G>C	ENSP00000502857.1:p.Arg481Ser
ENST00000677856.1:n.1750G>C
ENST00000677915.1:c.*394G>C	ENSP00000503118.1:n.*394G>C
ENST00000678533.1:c.*1051G>C	ENSP00000503873.1:n.*1051G>C
ENST00000678592.1:c.*437G>C	ENSP00000504424.1:n.*437G>C
ENST00000278407.8:c.1497G>C	ENSP00000278407.4:p.Arg499Ser
ENST00000340687.10:c.1386G>C	ENSP00000341861.6:p.Arg462Ser
ENST00000378323.8:c.1512G>C	ENSP00000367574.4:p.Arg504Ser
ENST00000378324.6:c.1341G>C	ENSP00000367575.2:p.Arg447Ser
ENST00000403558.1:c.1626G>C	ENSP00000384420.1:p.Arg542Ser
ENST00000528996.1:c.698G>C	ENSP00000431226.1:n.698G>C
ENST00000531133.5:c.998G>C	ENSP00000435431.1:n.998G>C
ENST00000531797.5:c.*522G>C	ENSP00000432554.1:n.*522G>C
ENST00000619430.1:c.628G>C	ENSP00000478572.1:n.628G>C
NM_000062.2:c.1497G>C , LRG_105t1:c.1497G>C	NP_000053.2:p.Arg499Ser
NM_001032295.1:c.1497G>C	NP_001027466.1:p.Arg499Ser
NM_000062.3:c.1497G>C MANE Select	NP_000053.2:p.Arg499Ser
NM_001032295.2:c.1497G>C	NP_001027466.1:p.Arg499Ser