Canonical Allele Identifier: CA354812122

Gene: ATR

Linked Data

• gnomAD v4: 3-142549484-G-T
• MyVariant Identifiers: chr3:g.142268326G>T (hg19) ; chr3:g.142549484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142549484G>T , CM000665.2:g.142549484G>T	GRCh38
NC_000003.11:g.142268326G>T , CM000665.1:g.142268326G>T	GRCh37
NC_000003.10:g.143751016G>T	NCBI36
NG_008951.1:g.34343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.3166C>A MANE Select	ENSP00000343741.4:p.Leu1056Met
ENST00000515149.3:c.*1940C>A	ENSP00000425897.3:n.*1940C>A
ENST00000653868.1:n.3195C>A
ENST00000656582.1:n.425C>A
ENST00000656590.1:c.1956C>A
ENST00000661310.1:c.2974C>A	ENSP00000499589.1:p.Leu992Met
ENST00000350721.8:c.3166C>A	ENSP00000343741.4:p.Leu1056Met
NM_001184.3:c.3166C>A	NP_001175.2:p.Leu1056Met
XM_011512924.1:c.3166C>A	XP_011511226.1:p.Leu1056Met
XM_011512925.1:c.2974C>A	XP_011511227.1:p.Leu992Met
XM_011512926.1:c.3166C>A	XP_011511228.1:p.Leu1056Met
XM_011512927.1:c.3166C>A	XP_011511229.1:p.Leu1056Met
XR_924147.1:n.3255C>A
XR_924148.1:n.3255C>A
XR_924149.1:n.3255C>A
NM_001354579.1:c.2974C>A	NP_001341508.1:p.Leu992Met
XR_001740179.2:n.3255C>A
XR_001740180.2:n.3255C>A
XR_001740181.2:n.3255C>A
XR_001740182.1:n.3255C>A
XR_002959543.1:n.3255C>A
XR_924148.2:n.3255C>A
NM_001184.4:c.3166C>A MANE Select	NP_001175.2:p.Leu1056Met
NM_001354579.2:c.2974C>A	NP_001341508.1:p.Leu992Met