Canonical Allele Identifier: CA380702269

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57611718-T-C
• MyVariant Identifiers: chr11:g.57379191T>C (hg19) ; chr11:g.57611718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611718T>C , CM000673.2:g.57611718T>C	GRCh38
NC_000011.9:g.57379191T>C , CM000673.1:g.57379191T>C	GRCh37
NC_000011.8:g.57135767T>C	NCBI36
NG_009625.1:g.19165T>C , LRG_105:g.19165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1031T>C MANE Select	ENSP00000278407.4:p.Val344Ala
ENST00000528996.2:c.59-8T>C	ENSP00000431226.2:n.59-8T>C
ENST00000531605.2:c.*807T>C	ENSP00000503752.1:n.*807T>C
ENST00000619430.2:c.827T>C	ENSP00000478572.2:p.Val276Ala
ENST00000676670.1:c.1031T>C	ENSP00000504807.1:p.Val344Ala
ENST00000676741.1:n.2113T>C
ENST00000677624.1:c.*451T>C	ENSP00000503979.1:n.*451T>C
ENST00000677625.1:c.1030-53T>C	ENSP00000502857.1:n.1030-53T>C
ENST00000677856.1:n.1284T>C
ENST00000677915.1:c.687T>C	ENSP00000503118.1:p.Gly229=
ENST00000678533.1:c.*585T>C	ENSP00000503873.1:n.*585T>C
ENST00000678592.1:c.1120T>C	ENSP00000504424.1:p.Trp374Arg
ENST00000278407.8:c.1031T>C	ENSP00000278407.4:p.Val344Ala
ENST00000340687.10:c.1030-110T>C	ENSP00000341861.6:n.1030-110T>C
ENST00000378323.8:c.1046T>C	ENSP00000367574.4:p.Val349Ala
ENST00000378324.6:c.875T>C	ENSP00000367575.2:p.Val292Ala
ENST00000403558.1:c.1160T>C	ENSP00000384420.1:p.Val387Ala
ENST00000528996.1:c.232T>C	ENSP00000431226.1:p.Trp78Arg
ENST00000530113.1:n.488T>C
ENST00000531133.5:c.532T>C	ENSP00000435431.1:n.532T>C
ENST00000531797.5:c.*56T>C	ENSP00000432554.1:n.*56T>C
ENST00000619430.1:c.349-187T>C	ENSP00000478572.1:n.349-187T>C
NM_000062.2:c.1031T>C , LRG_105t1:c.1031T>C	NP_000053.2:p.Val344Ala
NM_001032295.1:c.1031T>C	NP_001027466.1:p.Val344Ala
NM_000062.3:c.1031T>C MANE Select	NP_000053.2:p.Val344Ala
NM_001032295.2:c.1031T>C	NP_001027466.1:p.Val344Ala