Canonical Allele Identifier: CA10624922
Gene: SERPINE1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.101137803T>C
GRCh37 chr7:g.100781084T>C
gnomAD v2:
7:100781084 T / C
gnomAD v3:
7:101137803 T / C
gnomAD v4:
chr7-101137803-T-C
Joint Max Group AF 0.49176398 (EAS)
Genomes Max Group AF 0.48551628 (AFR)
Exomes Max Group AF 0.49942382 (EAS)
ClinVar Allele:
304468
ClinVar RCV:
RCV000341849
ClinVar Variation:
358316
dbSNP:
11178
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101137803T>C , CM000669.2:g.101137803T>C GRCh38
NC_000007.13:g.100781084T>C , CM000669.1:g.100781084T>C GRCh37
NC_000007.12:g.100567804T>C NCBI36
NG_013213.1:g.15706T>C , LRG_597:g.15706T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.*361T>C MANE Select ENSP00000223095.4:n.*361T>C
ENST00000223095.4:c.*361T>C ENSP00000223095.4:n.*361T>C
NM_000602.4:c.*361T>C , LRG_597t1:c.*361T>C NP_000593.1:n.*361T>C
NM_000602.5:c.*361T>C MANE Select NP_000593.1:n.*361T>C
NM_001386456.1:c.*361T>C NP_001373385.1:n.*361T>C
NM_001386457.1:c.*372T>C NP_001373386.1:n.*372T>C
NM_001386458.1:c.*361T>C NP_001373387.1:n.*361T>C
NM_001386459.1:c.1195-205T>C NP_001373388.1:n.1195-205T>C
NM_001386460.1:c.1185T>C NP_001373389.1:p.Asp395=
NM_001386461.1:c.1088-20T>C NP_001373390.1:n.1088-20T>C
NM_001386462.1:c.*361T>C NP_001373391.1:n.*361T>C
NM_001386463.1:c.*361T>C NP_001373392.1:n.*361T>C
NM_001386464.1:c.*452T>C NP_001373393.1:n.*452T>C
NM_001386465.1:c.*361T>C NP_001373394.1:n.*361T>C
NM_001386466.1:c.*361T>C NP_001373395.1:n.*361T>C
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