Canonical Allele Identifier: CA388021353

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511614T>A (hg19) ; chr13:g.51937478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937478T>A , CM000675.2:g.51937478T>A	GRCh38
NC_000013.10:g.52511614T>A , CM000675.1:g.52511614T>A	GRCh37
NC_000013.9:g.51409615T>A	NCBI36
NG_008806.1:g.79017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1551A>T	ENSP00000489512.2:n.*1551A>T
ENST00000673864.2:c.*2645A>T	ENSP00000501045.2:n.*2645A>T
ENST00000674147.2:c.3280A>T	ENSP00000500964.2:p.Arg1094Ter
ENST00000242839.10:c.3901A>T MANE Select	ENSP00000242839.5:p.Arg1301Ter
ENST00000344297.9:c.3280A>T	ENSP00000342559.5:p.Arg1094Ter
ENST00000400366.6:c.3568A>T	ENSP00000383217.3:p.Arg1190Ter
ENST00000448424.7:c.3649A>T	ENSP00000416738.3:p.Arg1217Ter
ENST00000673696.1:n.1142A>T
ENST00000673772.1:c.3667A>T	ENSP00000501168.1:p.Arg1223Ter
ENST00000673867.1:n.4040A>T
ENST00000673923.1:n.767A>T
ENST00000674147.1:c.2836A>T	ENSP00000500964.1:p.Arg946Ter
ENST00000242839.8:c.3901A>T	ENSP00000242839.4:p.Arg1301Ter
ENST00000344297.8:c.3280A>T	ENSP00000342559.5:p.Arg1094Ter
ENST00000400366.5:c.3568A>T	ENSP00000383217.3:p.Arg1190Ter
ENST00000400370.8:c.2611A>T	ENSP00000383221.3:p.Arg871Ter
ENST00000418097.7:c.3706A>T	ENSP00000393343.2:p.Arg1236Ter
ENST00000448424.6:c.3667A>T	ENSP00000416738.2:p.Arg1223Ter
ENST00000634296.1:c.1679A>T
ENST00000634308.1:c.*1002A>T	ENSP00000489234.1:n.*1002A>T
ENST00000634620.1:n.4645A>T
ENST00000634810.1:n.3246A>T
ENST00000634844.1:c.3757A>T	ENSP00000489398.1:p.Arg1253Ter
NM_000053.3:c.3901A>T	NP_000044.2:p.Arg1301Ter
NM_001005918.2:c.3280A>T	NP_001005918.1:p.Arg1094Ter
NM_001243182.1:c.3568A>T	NP_001230111.1:p.Arg1190Ter
XM_005266423.2:c.3805A>T	XP_005266480.1:p.Arg1269Ter
XM_005266424.3:c.3805A>T	XP_005266481.1:p.Arg1269Ter
XM_005266427.2:c.3667A>T	XP_005266484.1:p.Arg1223Ter
XM_005266428.1:c.3649A>T	XP_005266485.1:p.Arg1217Ter
XM_005266430.3:c.3901A>T	XP_005266487.1:p.Arg1301Ter
XM_005266431.2:c.3865A>T	XP_005266488.1:p.Arg1289Ter
XM_005266432.2:c.3415A>T	XP_005266489.1:p.Arg1139Ter
XM_006719837.2:c.3805A>T	XP_006719900.1:p.Arg1269Ter
XM_006719838.1:c.1717A>T	XP_006719901.1:p.Arg573Ter
XM_006719839.1:c.1534A>T	XP_006719902.1:p.Arg512Ter
XM_011535117.1:c.3805A>T	XP_011533419.1:p.Arg1269Ter
XM_011535118.1:c.3766A>T	XP_011533420.1:p.Arg1256Ter
XM_011535119.1:c.3718A>T	XP_011533421.1:p.Arg1240Ter
XM_011535120.1:c.3487A>T	XP_011533422.1:p.Arg1163Ter
XM_011535121.1:c.3388A>T	XP_011533423.1:p.Arg1130Ter
XM_011535122.1:c.2569A>T	XP_011533424.1:p.Arg857Ter
XR_941601.1:n.4120A>T
XR_941602.1:n.4120A>T
XR_941603.1:n.4120A>T
XR_941604.1:n.4120A>T
NM_001330578.1:c.3667A>T	NP_001317507.1:p.Arg1223Ter
NM_001330579.1:c.3649A>T	NP_001317508.1:p.Arg1217Ter
XM_005266424.4:c.3805A>T	XP_005266481.1:p.Arg1269Ter
XM_005266430.4:c.3901A>T	XP_005266487.1:p.Arg1301Ter
XM_005266431.4:c.3865A>T	XP_005266488.1:p.Arg1289Ter
XM_006719837.3:c.3805A>T	XP_006719900.1:p.Arg1269Ter
XM_011535117.3:c.3805A>T	XP_011533419.1:p.Arg1269Ter
XM_017020627.1:c.3805A>T	XP_016876116.1:p.Arg1269Ter
NM_000053.4:c.3901A>T MANE Select	NP_000044.2:p.Arg1301Ter
NM_001005918.3:c.3280A>T	NP_001005918.1:p.Arg1094Ter
NM_001330579.2:c.3649A>T	NP_001317508.1:p.Arg1217Ter
NM_001243182.2:c.3568A>T	NP_001230111.1:p.Arg1190Ter
NM_001330578.2:c.3667A>T	NP_001317507.1:p.Arg1223Ter