Canonical Allele Identifier: CA16044002
Gene: YME1L1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.27136371G>A
GRCh37 chr10:g.27425300G>A
Revel Score:
ENST00000376016 (MANE Select) 0.877
ENST00000326799 0.877
ENST00000375969 0.877
ENST00000375972 0.877
ENST00000427324 0.877
ENST00000396296 0.877
gnomAD v2:
10:27425300 G / A
gnomAD v4:
chr10-27136371-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000415698
ClinVar Variation:
374984
dbSNP:
1057519312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27136371G>A , CM000672.2:g.27136371G>A GRCh38
NC_000010.10:g.27425300G>A , CM000672.1:g.27425300G>A GRCh37
NC_000010.9:g.27465306G>A NCBI36
NG_047122.1:g.23908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376016.8:c.445C>T MANE Select ENSP00000365184.3:p.Arg149Trp
ENST00000326799.7:c.616C>T ENSP00000318480.3:p.Arg206Trp
ENST00000375972.7:c.616C>T ENSP00000365139.4:p.Arg206Trp
ENST00000376016.7:c.445C>T ENSP00000365184.3:p.Arg149Trp
ENST00000396296.7:c.421C>T ENSP00000379590.3:p.Arg141Trp
ENST00000427324.5:c.346C>T ENSP00000398713.1:p.Arg116Trp
ENST00000491542.6:c.169-1390C>T ENSP00000473557.1:n.169-1390C>T
ENST00000613434.4:c.346C>T ENSP00000481724.1:p.Arg116Trp
NM_001253866.1:c.346C>T NP_001240795.1:p.Arg116Trp
NM_014263.3:c.445C>T NP_055078.1:p.Arg149Trp
NM_139312.2:c.616C>T NP_647473.1:p.Arg206Trp
XM_011519300.1:c.517C>T XP_011517602.1:p.Arg173Trp
XM_011519300.3:c.517C>T XP_011517602.1:p.Arg173Trp
NM_014263.4:c.445C>T MANE Select NP_055078.1:p.Arg149Trp
NM_139312.3:c.616C>T NP_647473.1:p.Arg206Trp
NM_001253866.2:c.346C>T NP_001240795.1:p.Arg116Trp
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