Canonical Allele Identifier: CA354823978

Gene: ATR

Linked Data

• ClinVar Variation Id: 1769050
• ClinVar RCV Id: RCV002383267
• MyVariant Identifiers: chr3:g.142281220G>C (hg19) ; chr3:g.142562378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562378G>C , CM000665.2:g.142562378G>C	GRCh38
NC_000003.11:g.142281220G>C , CM000665.1:g.142281220G>C	GRCh37
NC_000003.10:g.143763910G>C	NCBI36
NG_008951.1:g.21449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1024C>G MANE Select	ENSP00000343741.4:p.Leu342Val
ENST00000515149.3:c.293-957C>G	ENSP00000425897.3:n.293-957C>G
ENST00000653868.1:n.1053C>G
ENST00000657914.1:n.3382C>G
ENST00000659195.1:n.3089C>G
ENST00000661310.1:c.1024C>G	ENSP00000499589.1:p.Leu342Val
ENST00000350721.8:c.1024C>G	ENSP00000343741.4:p.Leu342Val
ENST00000507148.1:c.293-30C>G	ENSP00000426595.1:n.293-30C>G
ENST00000515149.2:c.67C>G	ENSP00000425897.2:p.Leu23Val
NM_001184.3:c.1024C>G	NP_001175.2:p.Leu342Val
XM_011512924.1:c.1024C>G	XP_011511226.1:p.Leu342Val
XM_011512925.1:c.1024C>G	XP_011511227.1:p.Leu342Val
XM_011512926.1:c.1024C>G	XP_011511228.1:p.Leu342Val
XM_011512927.1:c.1024C>G	XP_011511229.1:p.Leu342Val
XR_924147.1:n.1113C>G
XR_924148.1:n.1113C>G
XR_924149.1:n.1113C>G
NM_001354579.1:c.1024C>G	NP_001341508.1:p.Leu342Val
XR_001740179.2:n.1113C>G
XR_001740180.2:n.1113C>G
XR_001740181.2:n.1113C>G
XR_001740182.1:n.1113C>G
XR_002959543.1:n.1113C>G
XR_924148.2:n.1113C>G
NM_001184.4:c.1024C>G MANE Select	NP_001175.2:p.Leu342Val
NM_001354579.2:c.1024C>G	NP_001341508.1:p.Leu342Val