Canonical Allele Identifier: CA4405511
Gene: SERPINE1 HGNC NCBI
ClinVar RCV:
RCV000325357
RCV001653713
ClinVar Variation:
358307
COSMIC:
COSM4414960
dbSNP:
6090
gnomAD v2:
7:100771723 G / A
gnomAD v3:
7:101128442 G / A
gnomAD v4:
chr7-101128442-G-A
Joint Max Group AF 0.06237899 (AFR)
Genomes Max Group AF 0.06098735 (AFR)
Exomes Max Group AF 0.06271898 (AFR)
MyVariant.info:
GRCh38 chr7:g.101128442G>A
GRCh37 chr7:g.100771723G>A
Revel Score:
ENST00000223095 (MANE Select) 0.141
ENST00000445463 0.141
ENST00000441467 0.141
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101128442G>A , CM000669.2:g.101128442G>A GRCh38
NC_000007.13:g.100771723G>A , CM000669.1:g.100771723G>A GRCh37
NC_000007.12:g.100558443G>A NCBI36
NG_013213.1:g.6345G>A , LRG_597:g.6345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.49G>A MANE Select ENSP00000223095.4:p.Val17Ile
ENST00000223095.4:c.49G>A ENSP00000223095.4:p.Val17Ile
NM_000602.4:c.49G>A , LRG_597t1:c.49G>A NP_000593.1:p.Val17Ile
NM_000602.5:c.49G>A MANE Select NP_000593.1:p.Val17Ile
NM_001386456.1:c.-32-172G>A NP_001373385.1:n.-32-172G>A
NM_001386457.1:c.49G>A NP_001373386.1:p.Val17Ile
NM_001386458.1:c.49G>A NP_001373387.1:p.Val17Ile
NM_001386459.1:c.49G>A NP_001373388.1:p.Val17Ile
NM_001386460.1:c.49G>A NP_001373389.1:p.Val17Ile
NM_001386461.1:c.49G>A NP_001373390.1:p.Val17Ile
NM_001386462.1:c.-69-84G>A NP_001373391.1:n.-69-84G>A
NM_001386463.1:c.43G>A NP_001373392.1:p.Val15Ile
NM_001386464.1:c.49G>A NP_001373393.1:p.Val17Ile
NM_001386465.1:c.49G>A NP_001373394.1:p.Val17Ile
NM_001386466.1:c.49G>A NP_001373395.1:p.Val17Ile
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