Canonical Allele Identifier: CA354793676

Gene: ATR

Linked Data

• ClinVar Variation Id: 2453576
• ClinVar RCV Id: RCV003187711
• MyVariant Identifiers: chr3:g.142168300T>A (hg19) ; chr3:g.142449458T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449458T>A , CM000665.2:g.142449458T>A	GRCh38
NC_000003.11:g.142168300T>A , CM000665.1:g.142168300T>A	GRCh37
NC_000003.10:g.143650990T>A	NCBI36
NG_008951.1:g.134369A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7906A>T MANE Select	ENSP00000343741.4:p.Met2636Leu
ENST00000513291.2:n.6615A>T
ENST00000653893.1:n.2764A>T
ENST00000654170.1:n.2749A>T
ENST00000656114.1:n.2992A>T
ENST00000656590.1:c.6833A>T
ENST00000658083.1:n.3086A>T
ENST00000661310.1:c.7714A>T	ENSP00000499589.1:p.Met2572Leu
ENST00000665483.1:n.5446A>T
ENST00000666447.1:n.4409A>T
ENST00000666943.1:n.4638A>T
ENST00000350721.8:c.7906A>T	ENSP00000343741.4:p.Met2636Leu
ENST00000504521.5:c.495A>T	ENSP00000422553.1:n.495A>T
ENST00000513291.1:c.4970A>T
ENST00000515810.1:c.332A>T	ENSP00000421870.1:n.332A>T
NM_001184.3:c.7906A>T	NP_001175.2:p.Met2636Leu
XM_011512924.1:c.7912A>T	XP_011511226.1:p.Met2638Leu
XM_011512925.1:c.7720A>T	XP_011511227.1:p.Met2574Leu
XR_924147.1:n.10663A>T
XR_924148.1:n.8138A>T
NM_001354579.1:c.7714A>T	NP_001341508.1:p.Met2572Leu
XR_001740179.2:n.8132A>T
XR_924148.2:n.8138A>T
NM_001184.4:c.7906A>T MANE Select	NP_001175.2:p.Met2636Leu
NM_001354579.2:c.7714A>T	NP_001341508.1:p.Met2572Leu