Canonical Allele Identifier: CA354796836

Gene: ATR

Linked Data

• ClinVar Variation Id: 2110669
• ClinVar RCV Id: RCV003042459
• MyVariant Identifiers: chr3:g.142232384C>G (hg19) ; chr3:g.142513542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513542C>G , CM000665.2:g.142513542C>G	GRCh38
NC_000003.11:g.142232384C>G , CM000665.1:g.142232384C>G	GRCh37
NC_000003.10:g.143715074C>G	NCBI36
NG_008951.1:g.70285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4600G>C MANE Select	ENSP00000343741.4:p.Val1534Leu
ENST00000653868.1:n.4629G>C
ENST00000656590.1:c.3390G>C
ENST00000661310.1:c.4408G>C	ENSP00000499589.1:p.Val1470Leu
ENST00000666943.1:n.64G>C
ENST00000350721.8:c.4600G>C	ENSP00000343741.4:p.Val1534Leu
NM_001184.3:c.4600G>C	NP_001175.2:p.Val1534Leu
XM_011512924.1:c.4606G>C	XP_011511226.1:p.Val1536Leu
XM_011512925.1:c.4414G>C	XP_011511227.1:p.Val1472Leu
XM_011512926.1:c.4606G>C	XP_011511228.1:p.Val1536Leu
XM_011512927.1:c.4606G>C	XP_011511229.1:p.Val1536Leu
XR_924147.1:n.4695G>C
XR_924148.1:n.4695G>C
XR_924149.1:n.4695G>C
NM_001354579.1:c.4408G>C	NP_001341508.1:p.Val1470Leu
XR_001740179.2:n.4689G>C
XR_001740180.2:n.4695G>C
XR_001740181.2:n.4695G>C
XR_001740182.1:n.4695G>C
XR_002959543.1:n.4695G>C
XR_924148.2:n.4695G>C
NM_001184.4:c.4600G>C MANE Select	NP_001175.2:p.Val1534Leu
NM_001354579.2:c.4408G>C	NP_001341508.1:p.Val1470Leu