Canonical Allele Identifier: CA354796682

Gene: ATR

Linked Data

• ClinVar Variation Id: 1494994
• ClinVar RCV Id: RCV001989694 ; RCV002331589 ; RCV003126074 ; RCV003126075
• dbSNP Id: rs1386387112
• gnomAD v2: 3-142232345-C-T
• gnomAD v4: 3-142513503-C-T
• MyVariant Identifiers: chr3:g.142232345C>T (hg19) ; chr3:g.142513503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513503C>T , CM000665.2:g.142513503C>T	GRCh38
NC_000003.11:g.142232345C>T , CM000665.1:g.142232345C>T	GRCh37
NC_000003.10:g.143715035C>T	NCBI36
NG_008951.1:g.70324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.4639G>A MANE Select	ENSP00000343741.4:p.Glu1547Lys
ENST00000653868.1:n.4668G>A
ENST00000656590.1:c.3429G>A
ENST00000661310.1:c.4447G>A	ENSP00000499589.1:p.Glu1483Lys
ENST00000666943.1:n.103G>A
ENST00000350721.8:c.4639G>A	ENSP00000343741.4:p.Glu1547Lys
NM_001184.3:c.4639G>A	NP_001175.2:p.Glu1547Lys
XM_011512924.1:c.4645G>A	XP_011511226.1:p.Glu1549Lys
XM_011512925.1:c.4453G>A	XP_011511227.1:p.Glu1485Lys
XM_011512926.1:c.4645G>A	XP_011511228.1:p.Glu1549Lys
XM_011512927.1:c.4645G>A	XP_011511229.1:p.Glu1549Lys
XR_924147.1:n.4734G>A
XR_924148.1:n.4734G>A
XR_924149.1:n.4734G>A
NM_001354579.1:c.4447G>A	NP_001341508.1:p.Glu1483Lys
XR_001740179.2:n.4728G>A
XR_001740180.2:n.4734G>A
XR_001740181.2:n.4734G>A
XR_001740182.1:n.4734G>A
XR_002959543.1:n.4734G>A
XR_924148.2:n.4734G>A
NM_001184.4:c.4639G>A MANE Select	NP_001175.2:p.Glu1547Lys
NM_001354579.2:c.4447G>A	NP_001341508.1:p.Glu1483Lys