Canonical Allele Identifier: CA2649012

Gene: ATR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449465T>C , CM000665.2:g.142449465T>C	GRCh38
NC_000003.11:g.142168307T>C , CM000665.1:g.142168307T>C	GRCh37
NC_000003.10:g.143650997T>C	NCBI36
NG_008951.1:g.134362A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001184.4:c.7899A>G MANE Select	NP_001175.2:p.Leu2633=
ENST00000350721.9:c.7899A>G MANE Select	ENSP00000343741.4:p.Leu2633=
NM_001184.3:c.7899A>G	NP_001175.2:p.Leu2633=
NM_001354579.1:c.7707A>G	NP_001341508.1:p.Leu2569=
NM_001354579.2:c.7707A>G	NP_001341508.1:p.Leu2569=
ENST00000350721.8:c.7899A>G	ENSP00000343741.4:p.Leu2633=
ENST00000504521.5:c.488A>G	ENSP00000422553.1:n.488A>G
ENST00000513291.1:c.4963A>G
ENST00000513291.2:n.6608A>G
ENST00000515810.1:c.325A>G	ENSP00000421870.1:n.325A>G
ENST00000653893.1:n.2757A>G
ENST00000654170.1:n.2742A>G
ENST00000656114.1:n.2985A>G
ENST00000656590.1:c.6826A>G
ENST00000658083.1:n.3079A>G
ENST00000661310.1:c.7707A>G	ENSP00000499589.1:p.Leu2569=
ENST00000665483.1:n.5439A>G
ENST00000666447.1:n.4402A>G
ENST00000666943.1:n.4631A>G
XM_011512924.1:c.7905A>G	XP_011511226.1:p.Leu2635=
XM_011512925.1:c.7713A>G	XP_011511227.1:p.Leu2571=
XR_001740179.2:n.8125A>G
XR_924147.1:n.10656A>G
XR_924148.1:n.8131A>G
XR_924148.2:n.8131A>G