Canonical Allele Identifier: CA368594112

Gene: SERPINE1

Linked Data

• MyVariant Identifiers: chr7:g.100771721T>G (hg19) ; chr7:g.101128440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101128440T>G , CM000669.2:g.101128440T>G	GRCh38
NC_000007.13:g.100771721T>G , CM000669.1:g.100771721T>G	GRCh37
NC_000007.12:g.100558441T>G	NCBI36
NG_013213.1:g.6343T>G , LRG_597:g.6343T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.47T>G MANE Select	ENSP00000223095.4:p.Leu16Arg
ENST00000223095.4:c.47T>G	ENSP00000223095.4:p.Leu16Arg
NM_000602.4:c.47T>G , LRG_597t1:c.47T>G	NP_000593.1:p.Leu16Arg
NM_000602.5:c.47T>G MANE Select	NP_000593.1:p.Leu16Arg
NM_001386456.1:c.-32-174T>G	NP_001373385.1:n.-32-174T>G
NM_001386457.1:c.47T>G	NP_001373386.1:p.Leu16Arg
NM_001386458.1:c.47T>G	NP_001373387.1:p.Leu16Arg
NM_001386459.1:c.47T>G	NP_001373388.1:p.Leu16Arg
NM_001386460.1:c.47T>G	NP_001373389.1:p.Leu16Arg
NM_001386461.1:c.47T>G	NP_001373390.1:p.Leu16Arg
NM_001386462.1:c.-69-86T>G	NP_001373391.1:n.-69-86T>G
NM_001386463.1:c.41T>G	NP_001373392.1:p.Leu14Arg
NM_001386464.1:c.47T>G	NP_001373393.1:p.Leu16Arg
NM_001386465.1:c.47T>G	NP_001373394.1:p.Leu16Arg
NM_001386466.1:c.47T>G	NP_001373395.1:p.Leu16Arg