Canonical Allele Identifier: CA380690263

Gene: SERPING1

Linked Data

• MyVariant Identifiers: chr11:g.57381825T>C (hg19) ; chr11:g.57614352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614352T>C , CM000673.2:g.57614352T>C	GRCh38
NC_000011.9:g.57381825T>C , CM000673.1:g.57381825T>C	GRCh37
NC_000011.8:g.57138401T>C	NCBI36
NG_009625.1:g.21799T>C , LRG_105:g.21799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1274T>C MANE Select	ENSP00000278407.4:p.Leu425Pro
ENST00000528996.2:c.*171T>C	ENSP00000431226.2:n.*171T>C
ENST00000531605.2:c.*1050T>C	ENSP00000503752.1:n.*1050T>C
ENST00000619430.2:c.1070T>C	ENSP00000478572.2:p.Leu357Pro
ENST00000676670.1:c.1274T>C	ENSP00000504807.1:p.Leu425Pro
ENST00000676741.1:n.2356T>C
ENST00000677624.1:c.*694T>C	ENSP00000503979.1:n.*694T>C
ENST00000677625.1:c.1220T>C	ENSP00000502857.1:p.Leu407Pro
ENST00000677856.1:n.1527T>C
ENST00000677915.1:c.*171T>C	ENSP00000503118.1:n.*171T>C
ENST00000678533.1:c.*828T>C	ENSP00000503873.1:n.*828T>C
ENST00000678592.1:c.*214T>C	ENSP00000504424.1:n.*214T>C
ENST00000278407.8:c.1274T>C	ENSP00000278407.4:p.Leu425Pro
ENST00000340687.10:c.1163T>C	ENSP00000341861.6:p.Leu388Pro
ENST00000378323.8:c.1289T>C	ENSP00000367574.4:p.Leu430Pro
ENST00000378324.6:c.1118T>C	ENSP00000367575.2:p.Leu373Pro
ENST00000403558.1:c.1403T>C	ENSP00000384420.1:p.Leu468Pro
ENST00000528996.1:c.475T>C	ENSP00000431226.1:n.475T>C
ENST00000530113.1:n.731T>C
ENST00000531133.5:c.775T>C	ENSP00000435431.1:n.775T>C
ENST00000531797.5:c.*299T>C	ENSP00000432554.1:n.*299T>C
ENST00000619430.1:c.405T>C	ENSP00000478572.1:n.405T>C
NM_000062.2:c.1274T>C , LRG_105t1:c.1274T>C	NP_000053.2:p.Leu425Pro
NM_001032295.1:c.1274T>C	NP_001027466.1:p.Leu425Pro
NM_000062.3:c.1274T>C MANE Select	NP_000053.2:p.Leu425Pro
NM_001032295.2:c.1274T>C	NP_001027466.1:p.Leu425Pro