Canonical Allele Identifier: CA354815345

Gene: ATR

Linked Data

• ClinVar Variation Id: 1793867
• ClinVar RCV Id: RCV002452910 ; RCV003146567
• gnomAD v4: 3-142553656-T-G
• MyVariant Identifiers: chr3:g.142272498T>G (hg19) ; chr3:g.142553656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553656T>G , CM000665.2:g.142553656T>G	GRCh38
NC_000003.11:g.142272498T>G , CM000665.1:g.142272498T>G	GRCh37
NC_000003.10:g.143755188T>G	NCBI36
NG_008951.1:g.30171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2617A>C MANE Select	ENSP00000343741.4:p.Thr873Pro
ENST00000515149.3:c.*1391A>C	ENSP00000425897.3:n.*1391A>C
ENST00000653868.1:n.2646A>C
ENST00000656590.1:c.1407A>C
ENST00000659195.1:n.5492A>C
ENST00000661310.1:c.2425A>C	ENSP00000499589.1:p.Thr809Pro
ENST00000350721.8:c.2617A>C	ENSP00000343741.4:p.Thr873Pro
NM_001184.3:c.2617A>C	NP_001175.2:p.Thr873Pro
XM_011512924.1:c.2617A>C	XP_011511226.1:p.Thr873Pro
XM_011512925.1:c.2425A>C	XP_011511227.1:p.Thr809Pro
XM_011512926.1:c.2617A>C	XP_011511228.1:p.Thr873Pro
XM_011512927.1:c.2617A>C	XP_011511229.1:p.Thr873Pro
XR_924147.1:n.2706A>C
XR_924148.1:n.2706A>C
XR_924149.1:n.2706A>C
NM_001354579.1:c.2425A>C	NP_001341508.1:p.Thr809Pro
XR_001740179.2:n.2706A>C
XR_001740180.2:n.2706A>C
XR_001740181.2:n.2706A>C
XR_001740182.1:n.2706A>C
XR_002959543.1:n.2706A>C
XR_924148.2:n.2706A>C
NM_001184.4:c.2617A>C MANE Select	NP_001175.2:p.Thr873Pro
NM_001354579.2:c.2425A>C	NP_001341508.1:p.Thr809Pro