Canonical Allele Identifier: CA354823844

Gene: ATR

Linked Data

• MyVariant Identifiers: chr3:g.142281184G>C (hg19) ; chr3:g.142562342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562342G>C , CM000665.2:g.142562342G>C	GRCh38
NC_000003.11:g.142281184G>C , CM000665.1:g.142281184G>C	GRCh37
NC_000003.10:g.143763874G>C	NCBI36
NG_008951.1:g.21485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1060C>G MANE Select	ENSP00000343741.4:p.Leu354Val
ENST00000515149.3:c.293-921C>G	ENSP00000425897.3:n.293-921C>G
ENST00000653868.1:n.1089C>G
ENST00000657914.1:n.3418C>G
ENST00000659195.1:n.3125C>G
ENST00000661310.1:c.1060C>G	ENSP00000499589.1:p.Leu354Val
ENST00000350721.8:c.1060C>G	ENSP00000343741.4:p.Leu354Val
ENST00000507148.1:c.299C>G	ENSP00000426595.1:p.Pro100Arg
ENST00000515149.2:c.103C>G	ENSP00000425897.2:p.Leu35Val
NM_001184.3:c.1060C>G	NP_001175.2:p.Leu354Val
XM_011512924.1:c.1060C>G	XP_011511226.1:p.Leu354Val
XM_011512925.1:c.1060C>G	XP_011511227.1:p.Leu354Val
XM_011512926.1:c.1060C>G	XP_011511228.1:p.Leu354Val
XM_011512927.1:c.1060C>G	XP_011511229.1:p.Leu354Val
XR_924147.1:n.1149C>G
XR_924148.1:n.1149C>G
XR_924149.1:n.1149C>G
NM_001354579.1:c.1060C>G	NP_001341508.1:p.Leu354Val
XR_001740179.2:n.1149C>G
XR_001740180.2:n.1149C>G
XR_001740181.2:n.1149C>G
XR_001740182.1:n.1149C>G
XR_002959543.1:n.1149C>G
XR_924148.2:n.1149C>G
NM_001184.4:c.1060C>G MANE Select	NP_001175.2:p.Leu354Val
NM_001354579.2:c.1060C>G	NP_001341508.1:p.Leu354Val