Canonical Allele Identifier: CA436172001

Gene: ATR

Linked Data

• ClinVar Variation Id: 1137490
• ClinVar RCV Id: RCV001473497
• dbSNP Id: rs144776553
• MyVariant Identifiers: chr3:g.142281182A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562340A>G , CM000665.2:g.142562340A>G	GRCh38
NC_000003.11:g.142281182A>G , CM000665.1:g.142281182A>G	GRCh37
NC_000003.10:g.143763872A>G	NCBI36
NG_008951.1:g.21487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1062T>C MANE Select	ENSP00000343741.4:p.Leu354=
ENST00000515149.3:c.293-919T>C	ENSP00000425897.3:n.293-919T>C
ENST00000653868.1:n.1091T>C
ENST00000657914.1:n.3420T>C
ENST00000659195.1:n.3127T>C
ENST00000661310.1:c.1062T>C	ENSP00000499589.1:p.Leu354=
ENST00000350721.8:c.1062T>C	ENSP00000343741.4:p.Leu354=
ENST00000507148.1:c.301T>C	ENSP00000426595.1:p.Ter101Gln
ENST00000515149.2:c.105T>C	ENSP00000425897.2:p.Leu35=
NM_001184.3:c.1062T>C	NP_001175.2:p.Leu354=
XM_011512924.1:c.1062T>C	XP_011511226.1:p.Leu354=
XM_011512925.1:c.1062T>C	XP_011511227.1:p.Leu354=
XM_011512926.1:c.1062T>C	XP_011511228.1:p.Leu354=
XM_011512927.1:c.1062T>C	XP_011511229.1:p.Leu354=
XR_924147.1:n.1151T>C
XR_924148.1:n.1151T>C
XR_924149.1:n.1151T>C
NM_001354579.1:c.1062T>C	NP_001341508.1:p.Leu354=
XR_001740179.2:n.1151T>C
XR_001740180.2:n.1151T>C
XR_001740181.2:n.1151T>C
XR_001740182.1:n.1151T>C
XR_002959543.1:n.1151T>C
XR_924148.2:n.1151T>C
NM_001184.4:c.1062T>C MANE Select	NP_001175.2:p.Leu354=
NM_001354579.2:c.1062T>C	NP_001341508.1:p.Leu354=