Canonical Allele Identifier: CA380690947

Gene: SERPING1

Linked Data

• MyVariant Identifiers: chr11:g.57382040G>C (hg19) ; chr11:g.57614567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614567G>C , CM000673.2:g.57614567G>C	GRCh38
NC_000011.9:g.57382040G>C , CM000673.1:g.57382040G>C	GRCh37
NC_000011.8:g.57138616G>C	NCBI36
NG_009625.1:g.22014G>C , LRG_105:g.22014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1489G>C MANE Select	ENSP00000278407.4:p.Asp497His
ENST00000528996.2:c.*386G>C	ENSP00000431226.2:n.*386G>C
ENST00000531605.2:c.*1265G>C	ENSP00000503752.1:n.*1265G>C
ENST00000619430.2:c.1285G>C	ENSP00000478572.2:p.Asp429His
ENST00000676670.1:c.1489G>C	ENSP00000504807.1:p.Asp497His
ENST00000676741.1:n.2571G>C
ENST00000677624.1:c.*909G>C	ENSP00000503979.1:n.*909G>C
ENST00000677625.1:c.1435G>C	ENSP00000502857.1:p.Asp479His
ENST00000677856.1:n.1742G>C
ENST00000677915.1:c.*386G>C	ENSP00000503118.1:n.*386G>C
ENST00000678533.1:c.*1043G>C	ENSP00000503873.1:n.*1043G>C
ENST00000678592.1:c.*429G>C	ENSP00000504424.1:n.*429G>C
ENST00000278407.8:c.1489G>C	ENSP00000278407.4:p.Asp497His
ENST00000340687.10:c.1378G>C	ENSP00000341861.6:p.Asp460His
ENST00000378323.8:c.1504G>C	ENSP00000367574.4:p.Asp502His
ENST00000378324.6:c.1333G>C	ENSP00000367575.2:p.Asp445His
ENST00000403558.1:c.1618G>C	ENSP00000384420.1:p.Asp540His
ENST00000528996.1:c.690G>C	ENSP00000431226.1:n.690G>C
ENST00000531133.5:c.990G>C	ENSP00000435431.1:n.990G>C
ENST00000531797.5:c.*514G>C	ENSP00000432554.1:n.*514G>C
ENST00000619430.1:c.620G>C	ENSP00000478572.1:n.620G>C
NM_000062.2:c.1489G>C , LRG_105t1:c.1489G>C	NP_000053.2:p.Asp497His
NM_001032295.1:c.1489G>C	NP_001027466.1:p.Asp497His
NM_000062.3:c.1489G>C MANE Select	NP_000053.2:p.Asp497His
NM_001032295.2:c.1489G>C	NP_001027466.1:p.Asp497His