Canonical Allele Identifier: CA354807922

Gene: ATR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142541008C>G , CM000665.2:g.142541008C>G	GRCh38
NC_000003.11:g.142259850C>G , CM000665.1:g.142259850C>G	GRCh37
NC_000003.10:g.143742540C>G	NCBI36
NG_008951.1:g.42819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.3477G>C MANE Select	ENSP00000343741.4:p.Met1159Ile
ENST00000515149.3:c.*2251G>C	ENSP00000425897.3:n.*2251G>C
ENST00000653868.1:n.3506G>C
ENST00000656582.1:n.736G>C
ENST00000656590.1:c.2267G>C
ENST00000661310.1:c.3285G>C	ENSP00000499589.1:p.Met1095Ile
ENST00000350721.8:c.3477G>C	ENSP00000343741.4:p.Met1159Ile
NM_001184.3:c.3477G>C	NP_001175.2:p.Met1159Ile
XM_011512924.1:c.3477G>C	XP_011511226.1:p.Met1159Ile
XM_011512925.1:c.3285G>C	XP_011511227.1:p.Met1095Ile
XM_011512926.1:c.3477G>C	XP_011511228.1:p.Met1159Ile
XM_011512927.1:c.3477G>C	XP_011511229.1:p.Met1159Ile
XR_924147.1:n.3566G>C
XR_924148.1:n.3566G>C
XR_924149.1:n.3566G>C
NM_001354579.1:c.3285G>C	NP_001341508.1:p.Met1095Ile
XR_001740179.2:n.3566G>C
XR_001740180.2:n.3566G>C
XR_001740181.2:n.3566G>C
XR_001740182.1:n.3566G>C
XR_002959543.1:n.3566G>C
XR_924148.2:n.3566G>C
NM_001184.4:c.3477G>C MANE Select	NP_001175.2:p.Met1159Ile
NM_001354579.2:c.3285G>C	NP_001341508.1:p.Met1095Ile