Canonical Allele Identifier: CA380690830

Gene: SERPING1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614516G>T , CM000673.2:g.57614516G>T	GRCh38
NC_000011.9:g.57381989G>T , CM000673.1:g.57381989G>T	GRCh37
NC_000011.8:g.57138565G>T	NCBI36
NG_009625.1:g.21963G>T , LRG_105:g.21963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1438G>T MANE Select	ENSP00000278407.4:p.Val480Leu
ENST00000528996.2:c.*335G>T	ENSP00000431226.2:n.*335G>T
ENST00000531605.2:c.*1214G>T	ENSP00000503752.1:n.*1214G>T
ENST00000619430.2:c.1234G>T	ENSP00000478572.2:p.Val412Leu
ENST00000676670.1:c.1438G>T	ENSP00000504807.1:p.Val480Leu
ENST00000676741.1:n.2520G>T
ENST00000677624.1:c.*858G>T	ENSP00000503979.1:n.*858G>T
ENST00000677625.1:c.1384G>T	ENSP00000502857.1:p.Val462Leu
ENST00000677856.1:n.1691G>T
ENST00000677915.1:c.*335G>T	ENSP00000503118.1:n.*335G>T
ENST00000678533.1:c.*992G>T	ENSP00000503873.1:n.*992G>T
ENST00000678592.1:c.*378G>T	ENSP00000504424.1:n.*378G>T
ENST00000278407.8:c.1438G>T	ENSP00000278407.4:p.Val480Leu
ENST00000340687.10:c.1327G>T	ENSP00000341861.6:p.Val443Leu
ENST00000378323.8:c.1453G>T	ENSP00000367574.4:p.Val485Leu
ENST00000378324.6:c.1282G>T	ENSP00000367575.2:p.Val428Leu
ENST00000403558.1:c.1567G>T	ENSP00000384420.1:p.Val523Leu
ENST00000528996.1:c.639G>T	ENSP00000431226.1:n.639G>T
ENST00000530113.1:n.895G>T
ENST00000531133.5:c.939G>T	ENSP00000435431.1:n.939G>T
ENST00000531797.5:c.*463G>T	ENSP00000432554.1:n.*463G>T
ENST00000619430.1:c.569G>T	ENSP00000478572.1:n.569G>T
NM_000062.2:c.1438G>T , LRG_105t1:c.1438G>T	NP_000053.2:p.Val480Leu
NM_001032295.1:c.1438G>T	NP_001027466.1:p.Val480Leu
NM_000062.3:c.1438G>T MANE Select	NP_000053.2:p.Val480Leu
NM_001032295.2:c.1438G>T	NP_001027466.1:p.Val480Leu