Canonical Allele Identifier: CA388021350

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511613C>A (hg19) ; chr13:g.51937477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937477C>A , CM000675.2:g.51937477C>A	GRCh38
NC_000013.10:g.52511613C>A , CM000675.1:g.52511613C>A	GRCh37
NC_000013.9:g.51409614C>A	NCBI36
NG_008806.1:g.79018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1552G>T	ENSP00000489512.2:n.*1552G>T
ENST00000673864.2:c.*2646G>T	ENSP00000501045.2:n.*2646G>T
ENST00000674147.2:c.3281G>T	ENSP00000500964.2:p.Arg1094Ile
ENST00000242839.10:c.3902G>T MANE Select	ENSP00000242839.5:p.Arg1301Ile
ENST00000344297.9:c.3281G>T	ENSP00000342559.5:p.Arg1094Ile
ENST00000400366.6:c.3569G>T	ENSP00000383217.3:p.Arg1190Ile
ENST00000448424.7:c.3650G>T	ENSP00000416738.3:p.Arg1217Ile
ENST00000673696.1:n.1143G>T
ENST00000673772.1:c.3668G>T	ENSP00000501168.1:p.Arg1223Ile
ENST00000673867.1:n.4041G>T
ENST00000673923.1:n.768G>T
ENST00000674147.1:c.2837G>T	ENSP00000500964.1:p.Arg946Ile
ENST00000242839.8:c.3902G>T	ENSP00000242839.4:p.Arg1301Ile
ENST00000344297.8:c.3281G>T	ENSP00000342559.5:p.Arg1094Ile
ENST00000400366.5:c.3569G>T	ENSP00000383217.3:p.Arg1190Ile
ENST00000400370.8:c.2612G>T	ENSP00000383221.3:p.Arg871Ile
ENST00000418097.7:c.3707G>T	ENSP00000393343.2:p.Arg1236Ile
ENST00000448424.6:c.3668G>T	ENSP00000416738.2:p.Arg1223Ile
ENST00000634296.1:c.1680G>T
ENST00000634308.1:c.*1003G>T	ENSP00000489234.1:n.*1003G>T
ENST00000634620.1:n.4646G>T
ENST00000634810.1:n.3247G>T
ENST00000634844.1:c.3758G>T	ENSP00000489398.1:p.Arg1253Ile
NM_000053.3:c.3902G>T	NP_000044.2:p.Arg1301Ile
NM_001005918.2:c.3281G>T	NP_001005918.1:p.Arg1094Ile
NM_001243182.1:c.3569G>T	NP_001230111.1:p.Arg1190Ile
XM_005266423.2:c.3806G>T	XP_005266480.1:p.Arg1269Ile
XM_005266424.3:c.3806G>T	XP_005266481.1:p.Arg1269Ile
XM_005266427.2:c.3668G>T	XP_005266484.1:p.Arg1223Ile
XM_005266428.1:c.3650G>T	XP_005266485.1:p.Arg1217Ile
XM_005266430.3:c.3902G>T	XP_005266487.1:p.Arg1301Ile
XM_005266431.2:c.3866G>T	XP_005266488.1:p.Arg1289Ile
XM_005266432.2:c.3416G>T	XP_005266489.1:p.Arg1139Ile
XM_006719837.2:c.3806G>T	XP_006719900.1:p.Arg1269Ile
XM_006719838.1:c.1718G>T	XP_006719901.1:p.Arg573Ile
XM_006719839.1:c.1535G>T	XP_006719902.1:p.Arg512Ile
XM_011535117.1:c.3806G>T	XP_011533419.1:p.Arg1269Ile
XM_011535118.1:c.3767G>T	XP_011533420.1:p.Arg1256Ile
XM_011535119.1:c.3719G>T	XP_011533421.1:p.Arg1240Ile
XM_011535120.1:c.3488G>T	XP_011533422.1:p.Arg1163Ile
XM_011535121.1:c.3389G>T	XP_011533423.1:p.Arg1130Ile
XM_011535122.1:c.2570G>T	XP_011533424.1:p.Arg857Ile
XR_941601.1:n.4121G>T
XR_941602.1:n.4121G>T
XR_941603.1:n.4121G>T
XR_941604.1:n.4121G>T
NM_001330578.1:c.3668G>T	NP_001317507.1:p.Arg1223Ile
NM_001330579.1:c.3650G>T	NP_001317508.1:p.Arg1217Ile
XM_005266424.4:c.3806G>T	XP_005266481.1:p.Arg1269Ile
XM_005266430.4:c.3902G>T	XP_005266487.1:p.Arg1301Ile
XM_005266431.4:c.3866G>T	XP_005266488.1:p.Arg1289Ile
XM_006719837.3:c.3806G>T	XP_006719900.1:p.Arg1269Ile
XM_011535117.3:c.3806G>T	XP_011533419.1:p.Arg1269Ile
XM_017020627.1:c.3806G>T	XP_016876116.1:p.Arg1269Ile
NM_000053.4:c.3902G>T MANE Select	NP_000044.2:p.Arg1301Ile
NM_001005918.3:c.3281G>T	NP_001005918.1:p.Arg1094Ile
NM_001330579.2:c.3650G>T	NP_001317508.1:p.Arg1217Ile
NM_001243182.2:c.3569G>T	NP_001230111.1:p.Arg1190Ile
NM_001330578.2:c.3668G>T	NP_001317507.1:p.Arg1223Ile