Canonical Allele Identifier: CA2650647
Gene: ATR HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142561367C>T , CM000665.2:g.142561367C>T GRCh38
NC_000003.11:g.142280209C>T , CM000665.1:g.142280209C>T GRCh37
NC_000003.10:g.143762899C>T NCBI36
NG_008951.1:g.22460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.1225G>A MANE Select ENSP00000343741.4:p.Glu409Lys
ENST00000515149.3:c.347G>A ENSP00000425897.3:p.Ter116=
ENST00000653868.1:n.1254G>A
ENST00000656590.1:c.15G>A
ENST00000657914.1:n.3583G>A
ENST00000659195.1:n.4100G>A
ENST00000661310.1:c.1225G>A ENSP00000499589.1:p.Glu409Lys
ENST00000350721.8:c.1225G>A ENSP00000343741.4:p.Glu409Lys
ENST00000507148.1:c.*161G>A ENSP00000426595.1:n.*161G>A
ENST00000515149.2:c.268G>A ENSP00000425897.2:p.Glu90Lys
NM_001184.3:c.1225G>A NP_001175.2:p.Glu409Lys
XM_011512924.1:c.1225G>A XP_011511226.1:p.Glu409Lys
XM_011512925.1:c.1225G>A XP_011511227.1:p.Glu409Lys
XM_011512926.1:c.1225G>A XP_011511228.1:p.Glu409Lys
XM_011512927.1:c.1225G>A XP_011511229.1:p.Glu409Lys
XR_924147.1:n.1314G>A
XR_924148.1:n.1314G>A
XR_924149.1:n.1314G>A
NM_001354579.1:c.1225G>A NP_001341508.1:p.Glu409Lys
XR_001740179.2:n.1314G>A
XR_001740180.2:n.1314G>A
XR_001740181.2:n.1314G>A
XR_001740182.1:n.1314G>A
XR_002959543.1:n.1314G>A
XR_924148.2:n.1314G>A
NM_001184.4:c.1225G>A MANE Select NP_001175.2:p.Glu409Lys
NM_001354579.2:c.1225G>A NP_001341508.1:p.Glu409Lys