Canonical Allele Identifier: CA354805757

Gene: ATR

Linked Data

• MyVariant Identifiers: chr3:g.142188974T>G (hg19) ; chr3:g.142470132T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470132T>G , CM000665.2:g.142470132T>G	GRCh38
NC_000003.11:g.142188974T>G , CM000665.1:g.142188974T>G	GRCh37
NC_000003.10:g.143671664T>G	NCBI36
NG_008951.1:g.113695A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6273A>C MANE Select	ENSP00000343741.4:p.Leu2091Phe
ENST00000513291.2:n.1457A>C
ENST00000654170.1:n.1116A>C
ENST00000656590.1:c.5063A>C
ENST00000661310.1:c.6081A>C	ENSP00000499589.1:p.Leu2027Phe
ENST00000665483.1:n.128A>C
ENST00000666447.1:n.108A>C
ENST00000666943.1:n.1737A>C
ENST00000350721.8:c.6273A>C	ENSP00000343741.4:p.Leu2091Phe
NM_001184.3:c.6273A>C	NP_001175.2:p.Leu2091Phe
XM_011512924.1:c.6279A>C	XP_011511226.1:p.Leu2093Phe
XM_011512925.1:c.6087A>C	XP_011511227.1:p.Leu2029Phe
XR_924147.1:n.6368A>C
XR_924148.1:n.6368A>C
XR_924149.1:n.6247A>C
NM_001354579.1:c.6081A>C	NP_001341508.1:p.Leu2027Phe
XR_001740179.2:n.6362A>C
XR_001740180.2:n.6416A>C
XR_001740181.2:n.6295A>C
XR_001740182.1:n.6247A>C
XR_002959543.1:n.6472A>C
XR_924148.2:n.6368A>C
NM_001184.4:c.6273A>C MANE Select	NP_001175.2:p.Leu2091Phe
NM_001354579.2:c.6081A>C	NP_001341508.1:p.Leu2027Phe