Canonical Allele Identifier: CA223054661

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2912968
• ClinVar RCV Id: RCV003727604
• dbSNP Id: rs945379360
• gnomAD v2: 11-57369545-C-T
• gnomAD v4: 11-57602072-C-T
• MyVariant Identifiers: chr11:g.57369545C>T (hg19) ; chr11:g.57602072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602072C>T , CM000673.2:g.57602072C>T	GRCh38
NC_000011.9:g.57369545C>T , CM000673.1:g.57369545C>T	GRCh37
NC_000011.8:g.57126121C>T	NCBI36
NG_009625.1:g.9519C>T , LRG_105:g.9519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.588C>T MANE Select	ENSP00000278407.4:p.Ile196=
ENST00000528996.2:c.58+3744C>T	ENSP00000431226.2:n.58+3744C>T
ENST00000531605.2:c.89C>T	ENSP00000503752.1:p.Ser30Phe
ENST00000619430.2:c.588C>T	ENSP00000478572.2:p.Ile196=
ENST00000676670.1:c.588C>T	ENSP00000504807.1:p.Ile196=
ENST00000676741.1:n.1670C>T
ENST00000677275.1:n.575C>T
ENST00000677624.1:c.588C>T	ENSP00000503979.1:p.Ile196=
ENST00000677625.1:c.588C>T	ENSP00000502857.1:p.Ile196=
ENST00000677856.1:n.647C>T
ENST00000677915.1:c.588C>T	ENSP00000503118.1:p.Ile196=
ENST00000678533.1:c.89C>T	ENSP00000503873.1:p.Ser30Phe
ENST00000678592.1:c.588C>T	ENSP00000504424.1:p.Ile196=
ENST00000278407.8:c.588C>T	ENSP00000278407.4:p.Ile196=
ENST00000340687.10:c.588C>T	ENSP00000341861.6:p.Ile196=
ENST00000378323.8:c.603C>T	ENSP00000367574.4:p.Ile201=
ENST00000378324.6:c.432C>T	ENSP00000367575.2:p.Ile144=
ENST00000403558.1:c.690C>T	ENSP00000384420.1:p.Ile230=
ENST00000531133.5:c.89C>T	ENSP00000435431.1:p.Ser30Phe
ENST00000531605.1:n.28C>T
ENST00000531797.5:c.89C>T	ENSP00000432554.1:p.Ser30Phe
ENST00000619430.1:c.348+1897C>T	ENSP00000478572.1:n.348+1897C>T
NM_000062.2:c.588C>T , LRG_105t1:c.588C>T	NP_000053.2:p.Ile196=
NM_001032295.1:c.588C>T	NP_001027466.1:p.Ile196=
NM_000062.3:c.588C>T MANE Select	NP_000053.2:p.Ile196=
NM_001032295.2:c.588C>T	NP_001027466.1:p.Ile196=