Canonical Allele Identifier: CA6008291

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 877135
• ClinVar RCV Id: RCV001102620 ; RCV002554996
• dbSNP Id: rs768058061
• ExAC: 11:57381985 C / T
• gnomAD v2: 11-57381985-C-T
• gnomAD v4: 11-57614512-C-T
• MyVariant Identifiers: chr11:g.57381985C>T (hg19) ; chr11:g.57614512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614512C>T , CM000673.2:g.57614512C>T	GRCh38
NC_000011.9:g.57381985C>T , CM000673.1:g.57381985C>T	GRCh37
NC_000011.8:g.57138561C>T	NCBI36
NG_009625.1:g.21959C>T , LRG_105:g.21959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1434C>T MANE Select	ENSP00000278407.4:p.Leu478=
ENST00000528996.2:c.*331C>T	ENSP00000431226.2:n.*331C>T
ENST00000531605.2:c.*1210C>T	ENSP00000503752.1:n.*1210C>T
ENST00000619430.2:c.1230C>T	ENSP00000478572.2:p.Leu410=
ENST00000676670.1:c.1434C>T	ENSP00000504807.1:p.Leu478=
ENST00000676741.1:n.2516C>T
ENST00000677624.1:c.*854C>T	ENSP00000503979.1:n.*854C>T
ENST00000677625.1:c.1380C>T	ENSP00000502857.1:p.Leu460=
ENST00000677856.1:n.1687C>T
ENST00000677915.1:c.*331C>T	ENSP00000503118.1:n.*331C>T
ENST00000678533.1:c.*988C>T	ENSP00000503873.1:n.*988C>T
ENST00000678592.1:c.*374C>T	ENSP00000504424.1:n.*374C>T
ENST00000278407.8:c.1434C>T	ENSP00000278407.4:p.Leu478=
ENST00000340687.10:c.1323C>T	ENSP00000341861.6:p.Leu441=
ENST00000378323.8:c.1449C>T	ENSP00000367574.4:p.Leu483=
ENST00000378324.6:c.1278C>T	ENSP00000367575.2:p.Leu426=
ENST00000403558.1:c.1563C>T	ENSP00000384420.1:p.Leu521=
ENST00000528996.1:c.635C>T	ENSP00000431226.1:n.635C>T
ENST00000530113.1:n.891C>T
ENST00000531133.5:c.935C>T	ENSP00000435431.1:n.935C>T
ENST00000531797.5:c.*459C>T	ENSP00000432554.1:n.*459C>T
ENST00000619430.1:c.565C>T	ENSP00000478572.1:n.565C>T
NM_000062.2:c.1434C>T , LRG_105t1:c.1434C>T	NP_000053.2:p.Leu478=
NM_001032295.1:c.1434C>T	NP_001027466.1:p.Leu478=
NM_000062.3:c.1434C>T MANE Select	NP_000053.2:p.Leu478=
NM_001032295.2:c.1434C>T	NP_001027466.1:p.Leu478=