Canonical Allele Identifier: CA380690864

Gene: SERPING1

Linked Data

• MyVariant Identifiers: chr11:g.57382003G>T (hg19) ; chr11:g.57614530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614530G>T , CM000673.2:g.57614530G>T	GRCh38
NC_000011.9:g.57382003G>T , CM000673.1:g.57382003G>T	GRCh37
NC_000011.8:g.57138579G>T	NCBI36
NG_009625.1:g.21977G>T , LRG_105:g.21977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1452G>T MANE Select	ENSP00000278407.4:p.Gln484His
ENST00000528996.2:c.*349G>T	ENSP00000431226.2:n.*349G>T
ENST00000531605.2:c.*1228G>T	ENSP00000503752.1:n.*1228G>T
ENST00000619430.2:c.1248G>T	ENSP00000478572.2:p.Gln416His
ENST00000676670.1:c.1452G>T	ENSP00000504807.1:p.Gln484His
ENST00000676741.1:n.2534G>T
ENST00000677624.1:c.*872G>T	ENSP00000503979.1:n.*872G>T
ENST00000677625.1:c.1398G>T	ENSP00000502857.1:p.Gln466His
ENST00000677856.1:n.1705G>T
ENST00000677915.1:c.*349G>T	ENSP00000503118.1:n.*349G>T
ENST00000678533.1:c.*1006G>T	ENSP00000503873.1:n.*1006G>T
ENST00000678592.1:c.*392G>T	ENSP00000504424.1:n.*392G>T
ENST00000278407.8:c.1452G>T	ENSP00000278407.4:p.Gln484His
ENST00000340687.10:c.1341G>T	ENSP00000341861.6:p.Gln447His
ENST00000378323.8:c.1467G>T	ENSP00000367574.4:p.Gln489His
ENST00000378324.6:c.1296G>T	ENSP00000367575.2:p.Gln432His
ENST00000403558.1:c.1581G>T	ENSP00000384420.1:p.Gln527His
ENST00000528996.1:c.653G>T	ENSP00000431226.1:n.653G>T
ENST00000531133.5:c.953G>T	ENSP00000435431.1:n.953G>T
ENST00000531797.5:c.*477G>T	ENSP00000432554.1:n.*477G>T
ENST00000619430.1:c.583G>T	ENSP00000478572.1:n.583G>T
NM_000062.2:c.1452G>T , LRG_105t1:c.1452G>T	NP_000053.2:p.Gln484His
NM_001032295.1:c.1452G>T	NP_001027466.1:p.Gln484His
NM_000062.3:c.1452G>T MANE Select	NP_000053.2:p.Gln484His
NM_001032295.2:c.1452G>T	NP_001027466.1:p.Gln484His