Canonical Allele Identifier: CA354806141

Gene: ATR

Linked Data

• gnomAD v4: 3-142470179-G-T
• MyVariant Identifiers: chr3:g.142189021G>T (hg19) ; chr3:g.142470179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470179G>T , CM000665.2:g.142470179G>T	GRCh38
NC_000003.11:g.142189021G>T , CM000665.1:g.142189021G>T	GRCh37
NC_000003.10:g.143671711G>T	NCBI36
NG_008951.1:g.113648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6226C>A MANE Select	ENSP00000343741.4:p.Leu2076Ile
ENST00000513291.2:n.1410C>A
ENST00000654170.1:n.1069C>A
ENST00000656590.1:c.5016C>A
ENST00000661310.1:c.6034C>A	ENSP00000499589.1:p.Leu2012Ile
ENST00000665483.1:n.81C>A
ENST00000666447.1:n.61C>A
ENST00000666943.1:n.1690C>A
ENST00000350721.8:c.6226C>A	ENSP00000343741.4:p.Leu2076Ile
NM_001184.3:c.6226C>A	NP_001175.2:p.Leu2076Ile
XM_011512924.1:c.6232C>A	XP_011511226.1:p.Leu2078Ile
XM_011512925.1:c.6040C>A	XP_011511227.1:p.Leu2014Ile
XR_924147.1:n.6321C>A
XR_924148.1:n.6321C>A
XR_924149.1:n.6200C>A
NM_001354579.1:c.6034C>A	NP_001341508.1:p.Leu2012Ile
XR_001740179.2:n.6315C>A
XR_001740180.2:n.6369C>A
XR_001740181.2:n.6248C>A
XR_001740182.1:n.6200C>A
XR_002959543.1:n.6425C>A
XR_924148.2:n.6321C>A
NM_001184.4:c.6226C>A MANE Select	NP_001175.2:p.Leu2076Ile
NM_001354579.2:c.6034C>A	NP_001341508.1:p.Leu2012Ile