Canonical Allele Identifier: CA413708015

Gene: ATRX

Linked Data

• COSMIC: COSM3390786 ; COSM3390787
• MyVariant Identifiers: chrX:g.76907671A>G (hg19) ; chrX:g.77652181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652181A>G , CM000685.2:g.77652181A>G	GRCh38
NC_000023.10:g.76907671A>G , CM000685.1:g.76907671A>G	GRCh37
NC_000023.9:g.76794327A>G	NCBI36
NG_008838.2:g.139041T>C
NG_008838.3:g.139089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4490T>C MANE Select	ENSP00000362441.4:p.Leu1497Pro
ENST00000373344.9:c.4490T>C	ENSP00000362441.4:p.Leu1497Pro
ENST00000395603.7:c.4376T>C	ENSP00000378967.3:p.Leu1459Pro
ENST00000480283.5:c.*4118T>C	ENSP00000480196.1:n.*4118T>C
ENST00000623242.3:c.96T>C
NM_000489.4:c.4490T>C	NP_000480.3:p.Leu1497Pro
NM_138270.3:c.4376T>C	NP_612114.2:p.Leu1459Pro
XM_005262153.3:c.4487T>C	XP_005262210.2:p.Leu1496Pro
XM_005262154.3:c.4403T>C	XP_005262211.2:p.Leu1468Pro
XM_005262155.3:c.4373T>C	XP_005262212.2:p.Leu1458Pro
XM_005262156.3:c.4325T>C	XP_005262213.2:p.Leu1442Pro
XM_005262157.3:c.4286T>C	XP_005262214.2:p.Leu1429Pro
XM_006724666.2:c.4373T>C	XP_006724729.1:p.Leu1458Pro
XM_006724667.2:c.4211T>C	XP_006724730.1:p.Leu1404Pro
XM_006724668.2:c.4490T>C	XP_006724731.1:p.Leu1497Pro
XR_938400.1:n.4758T>C
NM_000489.5:c.4490T>C	NP_000480.3:p.Leu1497Pro
XM_005262153.5:c.4487T>C	XP_005262210.2:p.Leu1496Pro
XM_005262154.5:c.4403T>C	XP_005262211.2:p.Leu1468Pro
XM_005262155.4:c.4373T>C	XP_005262212.2:p.Leu1458Pro
XM_005262156.4:c.4325T>C	XP_005262213.2:p.Leu1442Pro
XM_005262157.5:c.4286T>C	XP_005262214.2:p.Leu1429Pro
XM_006724666.4:c.4373T>C	XP_006724729.1:p.Leu1458Pro
XM_006724667.3:c.4211T>C	XP_006724730.1:p.Leu1404Pro
XM_006724668.3:c.4490T>C	XP_006724731.1:p.Leu1497Pro
XM_017029601.2:c.4400T>C	XP_016885090.1:p.Leu1467Pro
XM_017029602.1:c.4370T>C	XP_016885091.1:p.Leu1457Pro
XM_017029603.1:c.4322T>C	XP_016885092.1:p.Leu1441Pro
XM_017029604.2:c.4289T>C	XP_016885093.1:p.Leu1430Pro
XM_017029605.1:c.4286T>C	XP_016885094.1:p.Leu1429Pro
XM_017029606.2:c.4259T>C	XP_016885095.1:p.Leu1420Pro
XM_017029607.2:c.4256T>C	XP_016885096.1:p.Leu1419Pro
XM_017029608.2:c.4208T>C	XP_016885097.1:p.Leu1403Pro
XM_017029609.1:c.4172T>C	XP_016885098.1:p.Leu1391Pro
XM_017029610.1:c.4169T>C	XP_016885099.1:p.Leu1390Pro
XM_017029611.1:c.4124T>C	XP_016885100.1:p.Leu1375Pro
XR_001755700.2:n.4715T>C
NM_138270.4:c.4376T>C	NP_612114.2:p.Leu1459Pro
NM_000489.6:c.4490T>C MANE Select	NP_000480.3:p.Leu1497Pro
NM_138270.5:c.4376T>C	NP_612114.2:p.Leu1459Pro