Canonical Allele Identifier: CA223024393

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 427759
• ClinVar RCV Id: RCV000490705
• dbSNP Id: rs978962357
• gnomAD v2: 11-57382026-T-C
• MyVariant Identifiers: chr11:g.57382026T>C (hg19) ; chr11:g.57614553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614553T>C , CM000673.2:g.57614553T>C	GRCh38
NC_000011.9:g.57382026T>C , CM000673.1:g.57382026T>C	GRCh37
NC_000011.8:g.57138602T>C	NCBI36
NG_009625.1:g.22000T>C , LRG_105:g.22000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1475T>C MANE Select	ENSP00000278407.4:p.Met492Thr
ENST00000528996.2:c.*372T>C	ENSP00000431226.2:n.*372T>C
ENST00000531605.2:c.*1251T>C	ENSP00000503752.1:n.*1251T>C
ENST00000619430.2:c.1271T>C	ENSP00000478572.2:p.Met424Thr
ENST00000676670.1:c.1475T>C	ENSP00000504807.1:p.Met492Thr
ENST00000676741.1:n.2557T>C
ENST00000677624.1:c.*895T>C	ENSP00000503979.1:n.*895T>C
ENST00000677625.1:c.1421T>C	ENSP00000502857.1:p.Met474Thr
ENST00000677856.1:n.1728T>C
ENST00000677915.1:c.*372T>C	ENSP00000503118.1:n.*372T>C
ENST00000678533.1:c.*1029T>C	ENSP00000503873.1:n.*1029T>C
ENST00000678592.1:c.*415T>C	ENSP00000504424.1:n.*415T>C
ENST00000278407.8:c.1475T>C	ENSP00000278407.4:p.Met492Thr
ENST00000340687.10:c.1364T>C	ENSP00000341861.6:p.Met455Thr
ENST00000378323.8:c.1490T>C	ENSP00000367574.4:p.Met497Thr
ENST00000378324.6:c.1319T>C	ENSP00000367575.2:p.Met440Thr
ENST00000403558.1:c.1604T>C	ENSP00000384420.1:p.Met535Thr
ENST00000528996.1:c.676T>C	ENSP00000431226.1:n.676T>C
ENST00000531133.5:c.976T>C	ENSP00000435431.1:n.976T>C
ENST00000531797.5:c.*500T>C	ENSP00000432554.1:n.*500T>C
ENST00000619430.1:c.606T>C	ENSP00000478572.1:n.606T>C
NM_000062.2:c.1475T>C , LRG_105t1:c.1475T>C	NP_000053.2:p.Met492Thr
NM_001032295.1:c.1475T>C	NP_001027466.1:p.Met492Thr
NM_000062.3:c.1475T>C MANE Select	NP_000053.2:p.Met492Thr
NM_001032295.2:c.1475T>C	NP_001027466.1:p.Met492Thr