Canonical Allele Identifier: CA380699025

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57606087-A-C
• MyVariant Identifiers: chr11:g.57373560A>C (hg19) ; chr11:g.57606087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606087A>C , CM000673.2:g.57606087A>C	GRCh38
NC_000011.9:g.57373560A>C , CM000673.1:g.57373560A>C	GRCh37
NC_000011.8:g.57130136A>C	NCBI36
NG_009625.1:g.13534A>C , LRG_105:g.13534A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.763A>C MANE Select	ENSP00000278407.4:p.Ser255Arg
ENST00000528996.2:c.59-5639A>C	ENSP00000431226.2:n.59-5639A>C
ENST00000531605.2:c.*539A>C	ENSP00000503752.1:n.*539A>C
ENST00000619430.2:c.686-321A>C	ENSP00000478572.2:n.686-321A>C
ENST00000676670.1:c.763A>C	ENSP00000504807.1:p.Ser255Arg
ENST00000676741.1:n.1845A>C
ENST00000677624.1:c.*183A>C	ENSP00000503979.1:n.*183A>C
ENST00000677625.1:c.763A>C	ENSP00000502857.1:p.Ser255Arg
ENST00000677856.1:n.822A>C
ENST00000677915.1:c.685+3918A>C	ENSP00000503118.1:n.685+3918A>C
ENST00000678533.1:c.*317A>C	ENSP00000503873.1:n.*317A>C
ENST00000678592.1:c.763A>C	ENSP00000504424.1:p.Ser255Arg
ENST00000278407.8:c.763A>C	ENSP00000278407.4:p.Ser255Arg
ENST00000340687.10:c.763A>C	ENSP00000341861.6:p.Ser255Arg
ENST00000378323.8:c.778A>C	ENSP00000367574.4:p.Ser260Arg
ENST00000378324.6:c.607A>C	ENSP00000367575.2:p.Ser203Arg
ENST00000403558.1:c.865A>C	ENSP00000384420.1:p.Ser289Arg
ENST00000531133.5:c.264A>C	ENSP00000435431.1:n.264A>C
ENST00000531797.5:c.*54+3918A>C	ENSP00000432554.1:n.*54+3918A>C
ENST00000619430.1:c.349-5818A>C	ENSP00000478572.1:n.349-5818A>C
NM_000062.2:c.763A>C , LRG_105t1:c.763A>C	NP_000053.2:p.Ser255Arg
NM_001032295.1:c.763A>C	NP_001027466.1:p.Ser255Arg
NM_000062.3:c.763A>C MANE Select	NP_000053.2:p.Ser255Arg
NM_001032295.2:c.763A>C	NP_001027466.1:p.Ser255Arg