Canonical Allele Identifier: CA388028778

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516655G>C (hg19) ; chr13:g.51942519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942519G>C , CM000675.2:g.51942519G>C	GRCh38
NC_000013.10:g.52516655G>C , CM000675.1:g.52516655G>C	GRCh37
NC_000013.9:g.51414656G>C	NCBI36
NG_008806.1:g.73976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*929C>G	ENSP00000489512.2:n.*929C>G
ENST00000673864.2:c.*2023C>G	ENSP00000501045.2:n.*2023C>G
ENST00000674147.2:c.2658C>G	ENSP00000500964.2:p.Asp886Glu
ENST00000242839.10:c.3279C>G MANE Select	ENSP00000242839.5:p.Asp1093Glu
ENST00000344297.9:c.2658C>G	ENSP00000342559.5:p.Asp886Glu
ENST00000400366.6:c.2946C>G	ENSP00000383217.3:p.Asp982Glu
ENST00000448424.7:c.3027C>G	ENSP00000416738.3:p.Asp1009Glu
ENST00000673772.1:c.3045C>G	ENSP00000501168.1:p.Asp1015Glu
ENST00000673867.1:n.3418C>G
ENST00000674126.1:n.3642C>G
ENST00000674147.1:c.2214C>G	ENSP00000500964.1:p.Asp738Glu
ENST00000242839.8:c.3279C>G	ENSP00000242839.4:p.Asp1093Glu
ENST00000344297.8:c.2658C>G	ENSP00000342559.5:p.Asp886Glu
ENST00000400366.5:c.2946C>G	ENSP00000383217.3:p.Asp982Glu
ENST00000400370.8:c.1989C>G	ENSP00000383221.3:p.Asp663Glu
ENST00000418097.7:c.3084C>G	ENSP00000393343.2:p.Asp1028Glu
ENST00000448424.6:c.3045C>G	ENSP00000416738.2:p.Asp1015Glu
ENST00000634296.1:c.1057C>G
ENST00000634308.1:c.*380C>G	ENSP00000489234.1:n.*380C>G
ENST00000634620.1:n.4023C>G
ENST00000634810.1:n.2624C>G
ENST00000634844.1:c.3135C>G	ENSP00000489398.1:p.Asp1045Glu
NM_000053.3:c.3279C>G	NP_000044.2:p.Asp1093Glu
NM_001005918.2:c.2658C>G	NP_001005918.1:p.Asp886Glu
NM_001243182.1:c.2946C>G	NP_001230111.1:p.Asp982Glu
XM_005266423.2:c.3183C>G	XP_005266480.1:p.Asp1061Glu
XM_005266424.3:c.3183C>G	XP_005266481.1:p.Asp1061Glu
XM_005266427.2:c.3045C>G	XP_005266484.1:p.Asp1015Glu
XM_005266428.1:c.3027C>G	XP_005266485.1:p.Asp1009Glu
XM_005266430.3:c.3279C>G	XP_005266487.1:p.Asp1093Glu
XM_005266431.2:c.3243C>G	XP_005266488.1:p.Asp1081Glu
XM_005266432.2:c.2793C>G	XP_005266489.1:p.Asp931Glu
XM_006719837.2:c.3183C>G	XP_006719900.1:p.Asp1061Glu
XM_006719838.1:c.1095C>G	XP_006719901.1:p.Asp365Glu
XM_006719839.1:c.912C>G	XP_006719902.1:p.Asp304Glu
XM_011535117.1:c.3183C>G	XP_011533419.1:p.Asp1061Glu
XM_011535118.1:c.3144C>G	XP_011533420.1:p.Asp1048Glu
XM_011535119.1:c.3096C>G	XP_011533421.1:p.Asp1032Glu
XM_011535120.1:c.2865C>G	XP_011533422.1:p.Asp955Glu
XM_011535121.1:c.2766C>G	XP_011533423.1:p.Asp922Glu
XM_011535122.1:c.1947C>G	XP_011533424.1:p.Asp649Glu
XR_941601.1:n.3498C>G
XR_941602.1:n.3498C>G
XR_941603.1:n.3498C>G
XR_941604.1:n.3498C>G
NM_001330578.1:c.3045C>G	NP_001317507.1:p.Asp1015Glu
NM_001330579.1:c.3027C>G	NP_001317508.1:p.Asp1009Glu
XM_005266424.4:c.3183C>G	XP_005266481.1:p.Asp1061Glu
XM_005266430.4:c.3279C>G	XP_005266487.1:p.Asp1093Glu
XM_005266431.4:c.3243C>G	XP_005266488.1:p.Asp1081Glu
XM_006719837.3:c.3183C>G	XP_006719900.1:p.Asp1061Glu
XM_011535117.3:c.3183C>G	XP_011533419.1:p.Asp1061Glu
XM_017020627.1:c.3183C>G	XP_016876116.1:p.Asp1061Glu
NM_000053.4:c.3279C>G MANE Select	NP_000044.2:p.Asp1093Glu
NM_001005918.3:c.2658C>G	NP_001005918.1:p.Asp886Glu
NM_001330579.2:c.3027C>G	NP_001317508.1:p.Asp1009Glu
NM_001243182.2:c.2946C>G	NP_001230111.1:p.Asp982Glu
NM_001330578.2:c.3045C>G	NP_001317507.1:p.Asp1015Glu