Canonical Allele Identifier: CA5449560
Gene: YME1L1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.27134997A>G
GRCh37 chr10:g.27423926A>G
gnomAD v2:
10:27423926 A / G
gnomAD v3:
10:27134997 A / G
gnomAD v4:
chr10-27134997-A-G
Joint Max Group AF 0.10368792 (EAS)
Genomes Max Group AF 0.10872267 (EAS)
Exomes Max Group AF 0.10221195 (EAS)
ClinVar RCV:
RCV001688178
RCV002243418
ClinVar Variation:
1278570
dbSNP:
2275751
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27134997A>G , CM000672.2:g.27134997A>G GRCh38
NC_000010.10:g.27423926A>G , CM000672.1:g.27423926A>G GRCh37
NC_000010.9:g.27463932A>G NCBI36
NG_047122.1:g.25282T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376016.8:c.541-16T>C MANE Select ENSP00000365184.3:n.541-16T>C
ENST00000326799.7:c.712-16T>C ENSP00000318480.3:n.712-16T>C
ENST00000375972.7:c.712-16T>C ENSP00000365139.4:n.712-16T>C
ENST00000376016.7:c.541-16T>C ENSP00000365184.3:n.541-16T>C
ENST00000396296.7:c.517-16T>C ENSP00000379590.3:n.517-16T>C
ENST00000427324.5:c.442-16T>C ENSP00000398713.1:n.442-16T>C
ENST00000463270.1:n.63-16T>C
ENST00000491542.6:c.169-16T>C ENSP00000473557.1:n.169-16T>C
ENST00000613434.4:c.442-16T>C ENSP00000481724.1:n.442-16T>C
NM_001253866.1:c.442-16T>C NP_001240795.1:n.442-16T>C
NM_014263.3:c.541-16T>C NP_055078.1:n.541-16T>C
NM_139312.2:c.712-16T>C NP_647473.1:n.712-16T>C
XM_011519300.1:c.613-16T>C XP_011517602.1:n.613-16T>C
XM_011519300.3:c.613-16T>C XP_011517602.1:n.613-16T>C
NM_014263.4:c.541-16T>C MANE Select NP_055078.1:n.541-16T>C
NM_139312.3:c.712-16T>C NP_647473.1:n.712-16T>C
NM_001253866.2:c.442-16T>C NP_001240795.1:n.442-16T>C
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