Canonical Allele Identifier: CA388021165

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511498T>C (hg19) ; chr13:g.51937362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937362T>C , CM000675.2:g.51937362T>C	GRCh38
NC_000013.10:g.52511498T>C , CM000675.1:g.52511498T>C	GRCh37
NC_000013.9:g.51409499T>C	NCBI36
NG_008806.1:g.79133A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1585A>G	ENSP00000489512.2:n.*1585A>G
ENST00000673864.2:c.*2679A>G	ENSP00000501045.2:n.*2679A>G
ENST00000674147.2:c.3314A>G	ENSP00000500964.2:p.His1105Arg
ENST00000242839.10:c.3935A>G MANE Select	ENSP00000242839.5:p.His1312Arg
ENST00000344297.9:c.3314A>G	ENSP00000342559.5:p.His1105Arg
ENST00000400366.6:c.3602A>G	ENSP00000383217.3:p.His1201Arg
ENST00000448424.7:c.3683A>G	ENSP00000416738.3:p.His1228Arg
ENST00000673696.1:n.1258A>G
ENST00000673772.1:c.3701A>G	ENSP00000501168.1:p.His1234Arg
ENST00000673867.1:n.4074A>G
ENST00000673923.1:n.801A>G
ENST00000674147.1:c.2870A>G	ENSP00000500964.1:p.His957Arg
ENST00000242839.8:c.3935A>G	ENSP00000242839.4:p.His1312Arg
ENST00000344297.8:c.3314A>G	ENSP00000342559.5:p.His1105Arg
ENST00000400366.5:c.3602A>G	ENSP00000383217.3:p.His1201Arg
ENST00000400370.8:c.2645A>G	ENSP00000383221.3:p.His882Arg
ENST00000418097.7:c.3740A>G	ENSP00000393343.2:p.His1247Arg
ENST00000448424.6:c.3701A>G	ENSP00000416738.2:p.His1234Arg
ENST00000634296.1:c.1713A>G
ENST00000634308.1:c.*1036A>G	ENSP00000489234.1:n.*1036A>G
ENST00000634620.1:n.4679A>G
ENST00000634810.1:n.3280A>G
ENST00000634844.1:c.3791A>G	ENSP00000489398.1:p.His1264Arg
NM_000053.3:c.3935A>G	NP_000044.2:p.His1312Arg
NM_001005918.2:c.3314A>G	NP_001005918.1:p.His1105Arg
NM_001243182.1:c.3602A>G	NP_001230111.1:p.His1201Arg
XM_005266423.2:c.3839A>G	XP_005266480.1:p.His1280Arg
XM_005266424.3:c.3839A>G	XP_005266481.1:p.His1280Arg
XM_005266427.2:c.3701A>G	XP_005266484.1:p.His1234Arg
XM_005266428.1:c.3683A>G	XP_005266485.1:p.His1228Arg
XM_005266430.3:c.3935A>G	XP_005266487.1:p.His1312Arg
XM_005266431.2:c.3899A>G	XP_005266488.1:p.His1300Arg
XM_005266432.2:c.3449A>G	XP_005266489.1:p.His1150Arg
XM_006719837.2:c.3839A>G	XP_006719900.1:p.His1280Arg
XM_006719838.1:c.1751A>G	XP_006719901.1:p.His584Arg
XM_006719839.1:c.1568A>G	XP_006719902.1:p.His523Arg
XM_011535117.1:c.3839A>G	XP_011533419.1:p.His1280Arg
XM_011535118.1:c.3800A>G	XP_011533420.1:p.His1267Arg
XM_011535119.1:c.3752A>G	XP_011533421.1:p.His1251Arg
XM_011535120.1:c.3521A>G	XP_011533422.1:p.His1174Arg
XM_011535121.1:c.3422A>G	XP_011533423.1:p.His1141Arg
XM_011535122.1:c.2603A>G	XP_011533424.1:p.His868Arg
XR_941601.1:n.4154A>G
XR_941602.1:n.4154A>G
XR_941603.1:n.4154A>G
XR_941604.1:n.4154A>G
NM_001330578.1:c.3701A>G	NP_001317507.1:p.His1234Arg
NM_001330579.1:c.3683A>G	NP_001317508.1:p.His1228Arg
XM_005266424.4:c.3839A>G	XP_005266481.1:p.His1280Arg
XM_005266430.4:c.3935A>G	XP_005266487.1:p.His1312Arg
XM_005266431.4:c.3899A>G	XP_005266488.1:p.His1300Arg
XM_006719837.3:c.3839A>G	XP_006719900.1:p.His1280Arg
XM_011535117.3:c.3839A>G	XP_011533419.1:p.His1280Arg
XM_017020627.1:c.3839A>G	XP_016876116.1:p.His1280Arg
NM_000053.4:c.3935A>G MANE Select	NP_000044.2:p.His1312Arg
NM_001005918.3:c.3314A>G	NP_001005918.1:p.His1105Arg
NM_001330579.2:c.3683A>G	NP_001317508.1:p.His1228Arg
NM_001243182.2:c.3602A>G	NP_001230111.1:p.His1201Arg
NM_001330578.2:c.3701A>G	NP_001317507.1:p.His1234Arg