Canonical Allele Identifier: CA436106430

Gene: ATR

Linked Data

• ClinVar Variation Id: 2037813
• ClinVar RCV Id: RCV002890243
• dbSNP Id: rs2032699857
• MyVariant Identifiers: chr3:g.142232387G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513545G>A , CM000665.2:g.142513545G>A	GRCh38
NC_000003.11:g.142232387G>A , CM000665.1:g.142232387G>A	GRCh37
NC_000003.10:g.143715077G>A	NCBI36
NG_008951.1:g.70282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4597C>T MANE Select	ENSP00000343741.4:p.Leu1533=
ENST00000653868.1:n.4626C>T
ENST00000656590.1:c.3387C>T
ENST00000661310.1:c.4405C>T	ENSP00000499589.1:p.Leu1469=
ENST00000666943.1:n.61C>T
ENST00000350721.8:c.4597C>T	ENSP00000343741.4:p.Leu1533=
NM_001184.3:c.4597C>T	NP_001175.2:p.Leu1533=
XM_011512924.1:c.4603C>T	XP_011511226.1:p.Leu1535=
XM_011512925.1:c.4411C>T	XP_011511227.1:p.Leu1471=
XM_011512926.1:c.4603C>T	XP_011511228.1:p.Leu1535=
XM_011512927.1:c.4603C>T	XP_011511229.1:p.Leu1535=
XR_924147.1:n.4692C>T
XR_924148.1:n.4692C>T
XR_924149.1:n.4692C>T
NM_001354579.1:c.4405C>T	NP_001341508.1:p.Leu1469=
XR_001740179.2:n.4686C>T
XR_001740180.2:n.4692C>T
XR_001740181.2:n.4692C>T
XR_001740182.1:n.4692C>T
XR_002959543.1:n.4692C>T
XR_924148.2:n.4692C>T
NM_001184.4:c.4597C>T MANE Select	NP_001175.2:p.Leu1533=
NM_001354579.2:c.4405C>T	NP_001341508.1:p.Leu1469=