Canonical Allele Identifier: CA380690790

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 1299738
• ClinVar RCV Id: RCV002221663
• dbSNP Id: rs1450674538
• MyVariant Identifiers: chr11:g.57381973G>C (hg19) ; chr11:g.57614500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614500G>C , CM000673.2:g.57614500G>C	GRCh38
NC_000011.9:g.57381973G>C , CM000673.1:g.57381973G>C	GRCh37
NC_000011.8:g.57138549G>C	NCBI36
NG_009625.1:g.21947G>C , LRG_105:g.21947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1422G>C MANE Select	ENSP00000278407.4:p.Gln474His
ENST00000528996.2:c.*319G>C	ENSP00000431226.2:n.*319G>C
ENST00000531605.2:c.*1198G>C	ENSP00000503752.1:n.*1198G>C
ENST00000619430.2:c.1218G>C	ENSP00000478572.2:p.Gln406His
ENST00000676670.1:c.1422G>C	ENSP00000504807.1:p.Gln474His
ENST00000676741.1:n.2504G>C
ENST00000677624.1:c.*842G>C	ENSP00000503979.1:n.*842G>C
ENST00000677625.1:c.1368G>C	ENSP00000502857.1:p.Gln456His
ENST00000677856.1:n.1675G>C
ENST00000677915.1:c.*319G>C	ENSP00000503118.1:n.*319G>C
ENST00000678533.1:c.*976G>C	ENSP00000503873.1:n.*976G>C
ENST00000678592.1:c.*362G>C	ENSP00000504424.1:n.*362G>C
ENST00000278407.8:c.1422G>C	ENSP00000278407.4:p.Gln474His
ENST00000340687.10:c.1311G>C	ENSP00000341861.6:p.Gln437His
ENST00000378323.8:c.1437G>C	ENSP00000367574.4:p.Gln479His
ENST00000378324.6:c.1266G>C	ENSP00000367575.2:p.Gln422His
ENST00000403558.1:c.1551G>C	ENSP00000384420.1:p.Gln517His
ENST00000528996.1:c.623G>C	ENSP00000431226.1:n.623G>C
ENST00000530113.1:n.879G>C
ENST00000531133.5:c.923G>C	ENSP00000435431.1:n.923G>C
ENST00000531797.5:c.*447G>C	ENSP00000432554.1:n.*447G>C
ENST00000619430.1:c.553G>C	ENSP00000478572.1:n.553G>C
NM_000062.2:c.1422G>C , LRG_105t1:c.1422G>C	NP_000053.2:p.Gln474His
NM_001032295.1:c.1422G>C	NP_001027466.1:p.Gln474His
NM_000062.3:c.1422G>C MANE Select	NP_000053.2:p.Gln474His
NM_001032295.2:c.1422G>C	NP_001027466.1:p.Gln474His