Canonical Allele Identifier: CA380703280

Gene: SERPING1

Linked Data

• MyVariant Identifiers: chr11:g.57379344T>C (hg19) ; chr11:g.57611871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611871T>C , CM000673.2:g.57611871T>C	GRCh38
NC_000011.9:g.57379344T>C , CM000673.1:g.57379344T>C	GRCh37
NC_000011.8:g.57135920T>C	NCBI36
NG_009625.1:g.19318T>C , LRG_105:g.19318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1184T>C MANE Select	ENSP00000278407.4:p.Leu395Pro
ENST00000528996.2:c.*81T>C	ENSP00000431226.2:n.*81T>C
ENST00000531605.2:c.*960T>C	ENSP00000503752.1:n.*960T>C
ENST00000619430.2:c.980T>C	ENSP00000478572.2:p.Leu327Pro
ENST00000676670.1:c.1184T>C	ENSP00000504807.1:p.Leu395Pro
ENST00000676741.1:n.2266T>C
ENST00000677624.1:c.*604T>C	ENSP00000503979.1:n.*604T>C
ENST00000677625.1:c.1130T>C	ENSP00000502857.1:p.Leu377Pro
ENST00000677856.1:n.1437T>C
ENST00000677915.1:c.*81T>C	ENSP00000503118.1:n.*81T>C
ENST00000678533.1:c.*738T>C	ENSP00000503873.1:n.*738T>C
ENST00000678592.1:c.*124T>C	ENSP00000504424.1:n.*124T>C
ENST00000278407.8:c.1184T>C	ENSP00000278407.4:p.Leu395Pro
ENST00000340687.10:c.1073T>C	ENSP00000341861.6:p.Leu358Pro
ENST00000378323.8:c.1199T>C	ENSP00000367574.4:p.Leu400Pro
ENST00000378324.6:c.1028T>C	ENSP00000367575.2:p.Leu343Pro
ENST00000403558.1:c.1313T>C	ENSP00000384420.1:p.Leu438Pro
ENST00000528996.1:c.385T>C	ENSP00000431226.1:n.385T>C
ENST00000530113.1:n.641T>C
ENST00000531133.5:c.685T>C	ENSP00000435431.1:n.685T>C
ENST00000531797.5:c.*209T>C	ENSP00000432554.1:n.*209T>C
ENST00000619430.1:c.349-34T>C	ENSP00000478572.1:n.349-34T>C
NM_000062.2:c.1184T>C , LRG_105t1:c.1184T>C	NP_000053.2:p.Leu395Pro
NM_001032295.1:c.1184T>C	NP_001027466.1:p.Leu395Pro
NM_000062.3:c.1184T>C MANE Select	NP_000053.2:p.Leu395Pro
NM_001032295.2:c.1184T>C	NP_001027466.1:p.Leu395Pro