Canonical Allele Identifier: CA171378
Community Standard Title: NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)
Gene: ATR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142459302C>T , CM000665.2:g.142459302C>T GRCh38
NC_000003.11:g.142178144C>T , CM000665.1:g.142178144C>T GRCh37
NC_000003.10:g.143660834C>T NCBI36
NG_008951.1:g.124525G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001184.4:c.7274G>A MANE Select NP_001175.2:p.Arg2425Gln
ENST00000350721.9:c.7274G>A MANE Select ENSP00000343741.4:p.Arg2425Gln
NM_001184.3:c.7274G>A NP_001175.2:p.Arg2425Gln
NM_001354579.1:c.7082G>A NP_001341508.1:p.Arg2361Gln
NM_001354579.2:c.7082G>A NP_001341508.1:p.Arg2361Gln
ENST00000350721.8:c.7274G>A ENSP00000343741.4:p.Arg2425Gln
ENST00000513291.1:c.813G>A
ENST00000513291.2:n.2458G>A
ENST00000653893.1:n.2132G>A
ENST00000654170.1:n.2117G>A
ENST00000656114.1:n.1158G>A
ENST00000656590.1:c.6064G>A
ENST00000658083.1:n.1115G>A
ENST00000661310.1:c.7082G>A ENSP00000499589.1:p.Arg2361Gln
ENST00000665483.1:n.3612G>A
ENST00000666447.1:n.3777G>A
ENST00000666943.1:n.4006G>A
XM_011512924.1:c.7280G>A XP_011511226.1:p.Arg2427Gln
XM_011512925.1:c.7088G>A XP_011511227.1:p.Arg2363Gln
XR_001740179.2:n.7363G>A
XR_924147.1:n.7369G>A
XR_924148.1:n.7369G>A
XR_924148.2:n.7369G>A