Canonical Allele Identifier: CA368594128

Gene: SERPINE1

Linked Data

• MyVariant Identifiers: chr7:g.100771726T>C (hg19) ; chr7:g.101128445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101128445T>C , CM000669.2:g.101128445T>C	GRCh38
NC_000007.13:g.100771726T>C , CM000669.1:g.100771726T>C	GRCh37
NC_000007.12:g.100558446T>C	NCBI36
NG_013213.1:g.6348T>C , LRG_597:g.6348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.52T>C MANE Select	ENSP00000223095.4:p.Phe18Leu
ENST00000223095.4:c.52T>C	ENSP00000223095.4:p.Phe18Leu
NM_000602.4:c.52T>C , LRG_597t1:c.52T>C	NP_000593.1:p.Phe18Leu
NM_000602.5:c.52T>C MANE Select	NP_000593.1:p.Phe18Leu
NM_001386456.1:c.-32-169T>C	NP_001373385.1:n.-32-169T>C
NM_001386457.1:c.52T>C	NP_001373386.1:p.Phe18Leu
NM_001386458.1:c.52T>C	NP_001373387.1:p.Phe18Leu
NM_001386459.1:c.52T>C	NP_001373388.1:p.Phe18Leu
NM_001386460.1:c.52T>C	NP_001373389.1:p.Phe18Leu
NM_001386461.1:c.52T>C	NP_001373390.1:p.Phe18Leu
NM_001386462.1:c.-69-81T>C	NP_001373391.1:n.-69-81T>C
NM_001386463.1:c.46T>C	NP_001373392.1:p.Phe16Leu
NM_001386464.1:c.52T>C	NP_001373393.1:p.Phe18Leu
NM_001386465.1:c.52T>C	NP_001373394.1:p.Phe18Leu
NM_001386466.1:c.52T>C	NP_001373395.1:p.Phe18Leu