Canonical Allele Identifier: CA380703232

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2735617
• ClinVar RCV Id: RCV003557604
• MyVariant Identifiers: chr11:g.57379340A>C (hg19) ; chr11:g.57611867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611867A>C , CM000673.2:g.57611867A>C	GRCh38
NC_000011.9:g.57379340A>C , CM000673.1:g.57379340A>C	GRCh37
NC_000011.8:g.57135916A>C	NCBI36
NG_009625.1:g.19314A>C , LRG_105:g.19314A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1180A>C MANE Select	ENSP00000278407.4:p.Thr394Pro
ENST00000528996.2:c.*77A>C	ENSP00000431226.2:n.*77A>C
ENST00000531605.2:c.*956A>C	ENSP00000503752.1:n.*956A>C
ENST00000619430.2:c.976A>C	ENSP00000478572.2:p.Thr326Pro
ENST00000676670.1:c.1180A>C	ENSP00000504807.1:p.Thr394Pro
ENST00000676741.1:n.2262A>C
ENST00000677624.1:c.*600A>C	ENSP00000503979.1:n.*600A>C
ENST00000677625.1:c.1126A>C	ENSP00000502857.1:p.Thr376Pro
ENST00000677856.1:n.1433A>C
ENST00000677915.1:c.*77A>C	ENSP00000503118.1:n.*77A>C
ENST00000678533.1:c.*734A>C	ENSP00000503873.1:n.*734A>C
ENST00000678592.1:c.*120A>C	ENSP00000504424.1:n.*120A>C
ENST00000278407.8:c.1180A>C	ENSP00000278407.4:p.Thr394Pro
ENST00000340687.10:c.1069A>C	ENSP00000341861.6:p.Thr357Pro
ENST00000378323.8:c.1195A>C	ENSP00000367574.4:p.Thr399Pro
ENST00000378324.6:c.1024A>C	ENSP00000367575.2:p.Thr342Pro
ENST00000403558.1:c.1309A>C	ENSP00000384420.1:p.Thr437Pro
ENST00000528996.1:c.381A>C	ENSP00000431226.1:n.381A>C
ENST00000530113.1:n.637A>C
ENST00000531133.5:c.681A>C	ENSP00000435431.1:n.681A>C
ENST00000531797.5:c.*205A>C	ENSP00000432554.1:n.*205A>C
ENST00000619430.1:c.349-38A>C	ENSP00000478572.1:n.349-38A>C
NM_000062.2:c.1180A>C , LRG_105t1:c.1180A>C	NP_000053.2:p.Thr394Pro
NM_001032295.1:c.1180A>C	NP_001027466.1:p.Thr394Pro
NM_000062.3:c.1180A>C MANE Select	NP_000053.2:p.Thr394Pro
NM_001032295.2:c.1180A>C	NP_001027466.1:p.Thr394Pro