Canonical Allele Identifier: CA380703160

Gene: SERPING1

Linked Data

• dbSNP Id: rs1408272304
• gnomAD v3: 11-57611858-T-C
• gnomAD v4: 11-57611858-T-C
• MyVariant Identifiers: chr11:g.57379331T>C (hg19) ; chr11:g.57611858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611858T>C , CM000673.2:g.57611858T>C	GRCh38
NC_000011.9:g.57379331T>C , CM000673.1:g.57379331T>C	GRCh37
NC_000011.8:g.57135907T>C	NCBI36
NG_009625.1:g.19305T>C , LRG_105:g.19305T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1171T>C MANE Select	ENSP00000278407.4:p.Phe391Leu
ENST00000528996.2:c.*68T>C	ENSP00000431226.2:n.*68T>C
ENST00000531605.2:c.*947T>C	ENSP00000503752.1:n.*947T>C
ENST00000619430.2:c.967T>C	ENSP00000478572.2:p.Phe323Leu
ENST00000676670.1:c.1171T>C	ENSP00000504807.1:p.Phe391Leu
ENST00000676741.1:n.2253T>C
ENST00000677624.1:c.*591T>C	ENSP00000503979.1:n.*591T>C
ENST00000677625.1:c.1117T>C	ENSP00000502857.1:p.Phe373Leu
ENST00000677856.1:n.1424T>C
ENST00000677915.1:c.*68T>C	ENSP00000503118.1:n.*68T>C
ENST00000678533.1:c.*725T>C	ENSP00000503873.1:n.*725T>C
ENST00000678592.1:c.*111T>C	ENSP00000504424.1:n.*111T>C
ENST00000278407.8:c.1171T>C	ENSP00000278407.4:p.Phe391Leu
ENST00000340687.10:c.1060T>C	ENSP00000341861.6:p.Phe354Leu
ENST00000378323.8:c.1186T>C	ENSP00000367574.4:p.Phe396Leu
ENST00000378324.6:c.1015T>C	ENSP00000367575.2:p.Phe339Leu
ENST00000403558.1:c.1300T>C	ENSP00000384420.1:p.Phe434Leu
ENST00000528996.1:c.372T>C	ENSP00000431226.1:n.372T>C
ENST00000530113.1:n.628T>C
ENST00000531133.5:c.672T>C	ENSP00000435431.1:n.672T>C
ENST00000531797.5:c.*196T>C	ENSP00000432554.1:n.*196T>C
ENST00000619430.1:c.349-47T>C	ENSP00000478572.1:n.349-47T>C
NM_000062.2:c.1171T>C , LRG_105t1:c.1171T>C	NP_000053.2:p.Phe391Leu
NM_001032295.1:c.1171T>C	NP_001027466.1:p.Phe391Leu
NM_000062.3:c.1171T>C MANE Select	NP_000053.2:p.Phe391Leu
NM_001032295.2:c.1171T>C	NP_001027466.1:p.Phe391Leu