Canonical Allele Identifier: CA123260
Gene: SERPINE1 HGNC NCBI
COSMIC:
COSM3762287 (not active)
MyVariant.info:
GRCh38 chr7:g.101128436G>A
GRCh37 chr7:g.100771717G>A
Revel Score:
ENST00000223095 (MANE Select) 0.362
ENST00000445463 0.362
ENST00000441467 0.362
gnomAD v2:
7:100771717 G / A
gnomAD v3:
7:101128436 G / A
gnomAD v4:
chr7-101128436-G-A
Joint Max Group AF 0.11275774 (NFE)
Genomes Max Group AF 0.11456987 (NFE)
Exomes Max Group AF 0.1125313 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101128436G>A , CM000669.2:g.101128436G>A GRCh38
NC_000007.13:g.100771717G>A , CM000669.1:g.100771717G>A GRCh37
NC_000007.12:g.100558437G>A NCBI36
NG_013213.1:g.6339G>A , LRG_597:g.6339G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.43G>A MANE Select ENSP00000223095.4:p.Ala15Thr
ENST00000223095.4:c.43G>A ENSP00000223095.4:p.Ala15Thr
NM_000602.4:c.43G>A , LRG_597t1:c.43G>A NP_000593.1:p.Ala15Thr
NM_000602.5:c.43G>A MANE Select NP_000593.1:p.Ala15Thr
NM_001386456.1:c.-32-178G>A NP_001373385.1:n.-32-178G>A
NM_001386457.1:c.43G>A NP_001373386.1:p.Ala15Thr
NM_001386458.1:c.43G>A NP_001373387.1:p.Ala15Thr
NM_001386459.1:c.43G>A NP_001373388.1:p.Ala15Thr
NM_001386460.1:c.43G>A NP_001373389.1:p.Ala15Thr
NM_001386461.1:c.43G>A NP_001373390.1:p.Ala15Thr
NM_001386462.1:c.-69-90G>A NP_001373391.1:n.-69-90G>A
NM_001386463.1:c.37G>A NP_001373392.1:p.Ala13Thr
NM_001386464.1:c.43G>A NP_001373393.1:p.Ala15Thr
NM_001386465.1:c.43G>A NP_001373394.1:p.Ala15Thr
NM_001386466.1:c.43G>A NP_001373395.1:p.Ala15Thr
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