Canonical Allele Identifier: CA354798163

Gene: ATR

Linked Data

• ClinVar Variation Id: 2003984
• ClinVar RCV Id: RCV002828146
• MyVariant Identifiers: chr3:g.142234290C>A (hg19) ; chr3:g.142515448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142515448C>A , CM000665.2:g.142515448C>A	GRCh38
NC_000003.11:g.142234290C>A , CM000665.1:g.142234290C>A	GRCh37
NC_000003.10:g.143716980C>A	NCBI36
NG_008951.1:g.68379G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.4450G>T MANE Select	ENSP00000343741.4:p.Gly1484Cys
ENST00000653868.1:n.4479G>T
ENST00000656590.1:c.3240G>T
ENST00000661310.1:c.4258G>T	ENSP00000499589.1:p.Gly1420Cys
ENST00000350721.8:c.4450G>T	ENSP00000343741.4:p.Gly1484Cys
NM_001184.3:c.4450G>T	NP_001175.2:p.Gly1484Cys
XM_011512924.1:c.4456G>T	XP_011511226.1:p.Gly1486Cys
XM_011512925.1:c.4264G>T	XP_011511227.1:p.Gly1422Cys
XM_011512926.1:c.4456G>T	XP_011511228.1:p.Gly1486Cys
XM_011512927.1:c.4456G>T	XP_011511229.1:p.Gly1486Cys
XR_924147.1:n.4545G>T
XR_924148.1:n.4545G>T
XR_924149.1:n.4545G>T
NM_001354579.1:c.4258G>T	NP_001341508.1:p.Gly1420Cys
XR_001740179.2:n.4539G>T
XR_001740180.2:n.4545G>T
XR_001740181.2:n.4545G>T
XR_001740182.1:n.4545G>T
XR_002959543.1:n.4545G>T
XR_924148.2:n.4545G>T
NM_001184.4:c.4450G>T MANE Select	NP_001175.2:p.Gly1484Cys
NM_001354579.2:c.4258G>T	NP_001341508.1:p.Gly1420Cys