Canonical Allele Identifier: CA380699781

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57606204-T-C
• MyVariant Identifiers: chr11:g.57373677T>C (hg19) ; chr11:g.57606204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606204T>C , CM000673.2:g.57606204T>C	GRCh38
NC_000011.9:g.57373677T>C , CM000673.1:g.57373677T>C	GRCh37
NC_000011.8:g.57130253T>C	NCBI36
NG_009625.1:g.13651T>C , LRG_105:g.13651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.880T>C MANE Select	ENSP00000278407.4:p.Tyr294His
ENST00000528996.2:c.59-5522T>C	ENSP00000431226.2:n.59-5522T>C
ENST00000531605.2:c.*656T>C	ENSP00000503752.1:n.*656T>C
ENST00000619430.2:c.686-204T>C	ENSP00000478572.2:n.686-204T>C
ENST00000676670.1:c.880T>C	ENSP00000504807.1:p.Tyr294His
ENST00000676741.1:n.1962T>C
ENST00000677624.1:c.*300T>C	ENSP00000503979.1:n.*300T>C
ENST00000677625.1:c.880T>C	ENSP00000502857.1:p.Tyr294His
ENST00000677856.1:n.939T>C
ENST00000677915.1:c.685+4035T>C	ENSP00000503118.1:n.685+4035T>C
ENST00000678533.1:c.*434T>C	ENSP00000503873.1:n.*434T>C
ENST00000678592.1:c.880T>C	ENSP00000504424.1:p.Tyr294His
ENST00000278407.8:c.880T>C	ENSP00000278407.4:p.Tyr294His
ENST00000340687.10:c.880T>C	ENSP00000341861.6:p.Tyr294His
ENST00000378323.8:c.895T>C	ENSP00000367574.4:p.Tyr299His
ENST00000378324.6:c.724T>C	ENSP00000367575.2:p.Tyr242His
ENST00000403558.1:c.982T>C	ENSP00000384420.1:p.Tyr328His
ENST00000531133.5:c.381T>C	ENSP00000435431.1:n.381T>C
ENST00000531797.5:c.*54+4035T>C	ENSP00000432554.1:n.*54+4035T>C
ENST00000619430.1:c.349-5701T>C	ENSP00000478572.1:n.349-5701T>C
NM_000062.2:c.880T>C , LRG_105t1:c.880T>C	NP_000053.2:p.Tyr294His
NM_001032295.1:c.880T>C	NP_001027466.1:p.Tyr294His
NM_000062.3:c.880T>C MANE Select	NP_000053.2:p.Tyr294His
NM_001032295.2:c.880T>C	NP_001027466.1:p.Tyr294His