Canonical Allele Identifier: CA380698596

Gene: SERPING1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606030T>C , CM000673.2:g.57606030T>C	GRCh38
NC_000011.9:g.57373503T>C , CM000673.1:g.57373503T>C	GRCh37
NC_000011.8:g.57130079T>C	NCBI36
NG_009625.1:g.13477T>C , LRG_105:g.13477T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000062.3:c.706T>C MANE Select	NP_000053.2:p.Phe236Leu
ENST00000278407.9:c.706T>C MANE Select	ENSP00000278407.4:p.Phe236Leu
NM_000062.2:c.706T>C , LRG_105t1:c.706T>C	NP_000053.2:p.Phe236Leu
NM_001032295.1:c.706T>C	NP_001027466.1:p.Phe236Leu
NM_001032295.2:c.706T>C	NP_001027466.1:p.Phe236Leu
ENST00000278407.8:c.706T>C	ENSP00000278407.4:p.Phe236Leu
ENST00000340687.10:c.706T>C	ENSP00000341861.6:p.Phe236Leu
ENST00000378323.8:c.721T>C	ENSP00000367574.4:p.Phe241Leu
ENST00000378324.6:c.550T>C	ENSP00000367575.2:p.Phe184Leu
ENST00000403558.1:c.808T>C	ENSP00000384420.1:p.Phe270Leu
ENST00000528996.2:c.59-5696T>C	ENSP00000431226.2:n.59-5696T>C
ENST00000531133.5:c.207T>C	ENSP00000435431.1:n.207T>C
ENST00000531605.1:n.553T>C
ENST00000531605.2:c.*482T>C	ENSP00000503752.1:n.*482T>C
ENST00000531797.5:c.*54+3861T>C	ENSP00000432554.1:n.*54+3861T>C
ENST00000619430.1:c.348+5855T>C	ENSP00000478572.1:n.348+5855T>C
ENST00000619430.2:c.686-378T>C	ENSP00000478572.2:n.686-378T>C
ENST00000676670.1:c.706T>C	ENSP00000504807.1:p.Phe236Leu
ENST00000676741.1:n.1788T>C
ENST00000677624.1:c.*126T>C	ENSP00000503979.1:n.*126T>C
ENST00000677625.1:c.706T>C	ENSP00000502857.1:p.Phe236Leu
ENST00000677856.1:n.765T>C
ENST00000677915.1:c.685+3861T>C	ENSP00000503118.1:n.685+3861T>C
ENST00000678533.1:c.*260T>C	ENSP00000503873.1:n.*260T>C
ENST00000678592.1:c.706T>C	ENSP00000504424.1:p.Phe236Leu