Canonical Allele Identifier: CA380690880

Gene: SERPING1

Linked Data

• dbSNP Id: rs1459395442
• gnomAD v2: 11-57382010-A-C
• gnomAD v4: 11-57614537-A-C
• MyVariant Identifiers: chr11:g.57382010A>C (hg19) ; chr11:g.57614537A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614537A>C , CM000673.2:g.57614537A>C	GRCh38
NC_000011.9:g.57382010A>C , CM000673.1:g.57382010A>C	GRCh37
NC_000011.8:g.57138586A>C	NCBI36
NG_009625.1:g.21984A>C , LRG_105:g.21984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1459A>C MANE Select	ENSP00000278407.4:p.Lys487Gln
ENST00000528996.2:c.*356A>C	ENSP00000431226.2:n.*356A>C
ENST00000531605.2:c.*1235A>C	ENSP00000503752.1:n.*1235A>C
ENST00000619430.2:c.1255A>C	ENSP00000478572.2:p.Lys419Gln
ENST00000676670.1:c.1459A>C	ENSP00000504807.1:p.Lys487Gln
ENST00000676741.1:n.2541A>C
ENST00000677624.1:c.*879A>C	ENSP00000503979.1:n.*879A>C
ENST00000677625.1:c.1405A>C	ENSP00000502857.1:p.Lys469Gln
ENST00000677856.1:n.1712A>C
ENST00000677915.1:c.*356A>C	ENSP00000503118.1:n.*356A>C
ENST00000678533.1:c.*1013A>C	ENSP00000503873.1:n.*1013A>C
ENST00000678592.1:c.*399A>C	ENSP00000504424.1:n.*399A>C
ENST00000278407.8:c.1459A>C	ENSP00000278407.4:p.Lys487Gln
ENST00000340687.10:c.1348A>C	ENSP00000341861.6:p.Lys450Gln
ENST00000378323.8:c.1474A>C	ENSP00000367574.4:p.Lys492Gln
ENST00000378324.6:c.1303A>C	ENSP00000367575.2:p.Lys435Gln
ENST00000403558.1:c.1588A>C	ENSP00000384420.1:p.Lys530Gln
ENST00000528996.1:c.660A>C	ENSP00000431226.1:n.660A>C
ENST00000531133.5:c.960A>C	ENSP00000435431.1:n.960A>C
ENST00000531797.5:c.*484A>C	ENSP00000432554.1:n.*484A>C
ENST00000619430.1:c.590A>C	ENSP00000478572.1:n.590A>C
NM_000062.2:c.1459A>C , LRG_105t1:c.1459A>C	NP_000053.2:p.Lys487Gln
NM_001032295.1:c.1459A>C	NP_001027466.1:p.Lys487Gln
NM_000062.3:c.1459A>C MANE Select	NP_000053.2:p.Lys487Gln
NM_001032295.2:c.1459A>C	NP_001027466.1:p.Lys487Gln