Canonical Allele Identifier: CA483894764
Gene: ATP7B HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.52518407G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944271G>A , CM000675.2:g.51944271G>A GRCh38
NC_000013.10:g.52518407G>A , CM000675.1:g.52518407G>A GRCh37
NC_000013.9:g.51416408G>A NCBI36
NG_008806.1:g.72224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1717C>T ENSP00000489512.2:n.*894-1717C>T
ENST00000673864.2:c.*1825C>T ENSP00000501045.2:n.*1825C>T
ENST00000674147.2:c.2460C>T ENSP00000500964.2:p.Asp820=
ENST00000242839.10:c.3081C>T MANE Select ENSP00000242839.5:p.Asp1027=
ENST00000344297.9:c.2460C>T ENSP00000342559.5:p.Asp820=
ENST00000400366.6:c.2748C>T ENSP00000383217.3:p.Asp916=
ENST00000448424.7:c.2829C>T ENSP00000416738.3:p.Asp943=
ENST00000673772.1:c.2847C>T ENSP00000501168.1:p.Asp949=
ENST00000673867.1:n.3220C>T
ENST00000674126.1:n.3444C>T
ENST00000674147.1:c.2016C>T ENSP00000500964.1:p.Asp672=
ENST00000242839.8:c.3081C>T ENSP00000242839.4:p.Asp1027=
ENST00000344297.8:c.2460C>T ENSP00000342559.5:p.Asp820=
ENST00000400366.5:c.2748C>T ENSP00000383217.3:p.Asp916=
ENST00000400370.8:c.1791C>T ENSP00000383221.3:p.Asp597=
ENST00000418097.7:c.2886C>T ENSP00000393343.2:p.Asp962=
ENST00000448424.6:c.2847C>T ENSP00000416738.2:p.Asp949=
ENST00000466629.1:n.301C>T
ENST00000634296.1:c.1022-1717C>T
ENST00000634308.1:c.*182C>T ENSP00000489234.1:n.*182C>T
ENST00000634620.1:n.3825C>T
ENST00000634810.1:n.2426C>T
ENST00000634844.1:c.2937C>T ENSP00000489398.1:p.Asp979=
ENST00000635406.1:n.427C>T
NM_000053.3:c.3081C>T NP_000044.2:p.Asp1027=
NM_001005918.2:c.2460C>T NP_001005918.1:p.Asp820=
NM_001243182.1:c.2748C>T NP_001230111.1:p.Asp916=
XM_005266423.2:c.2985C>T XP_005266480.1:p.Asp995=
XM_005266424.3:c.2985C>T XP_005266481.1:p.Asp995=
XM_005266427.2:c.2847C>T XP_005266484.1:p.Asp949=
XM_005266428.1:c.2829C>T XP_005266485.1:p.Asp943=
XM_005266430.3:c.3081C>T XP_005266487.1:p.Asp1027=
XM_005266431.2:c.3045C>T XP_005266488.1:p.Asp1015=
XM_005266432.2:c.2595C>T XP_005266489.1:p.Asp865=
XM_006719837.2:c.2985C>T XP_006719900.1:p.Asp995=
XM_006719838.1:c.897C>T XP_006719901.1:p.Asp299=
XM_006719839.1:c.877-1717C>T XP_006719902.1:n.877-1717C>T
XM_011535117.1:c.2985C>T XP_011533419.1:p.Asp995=
XM_011535118.1:c.2946C>T XP_011533420.1:p.Asp982=
XM_011535119.1:c.3061-1717C>T XP_011533421.1:n.3061-1717C>T
XM_011535120.1:c.2667C>T XP_011533422.1:p.Asp889=
XM_011535121.1:c.2731-1717C>T XP_011533423.1:n.2731-1717C>T
XM_011535122.1:c.1749C>T XP_011533424.1:p.Asp583=
XR_941601.1:n.3300C>T
XR_941602.1:n.3300C>T
XR_941603.1:n.3300C>T
XR_941604.1:n.3300C>T
NM_001330578.1:c.2847C>T NP_001317507.1:p.Asp949=
NM_001330579.1:c.2829C>T NP_001317508.1:p.Asp943=
XM_005266424.4:c.2985C>T XP_005266481.1:p.Asp995=
XM_005266430.4:c.3081C>T XP_005266487.1:p.Asp1027=
XM_005266431.4:c.3045C>T XP_005266488.1:p.Asp1015=
XM_006719837.3:c.2985C>T XP_006719900.1:p.Asp995=
XM_011535117.3:c.2985C>T XP_011533419.1:p.Asp995=
XM_017020627.1:c.2985C>T XP_016876116.1:p.Asp995=
NM_000053.4:c.3081C>T MANE Select NP_000044.2:p.Asp1027=
NM_001005918.3:c.2460C>T NP_001005918.1:p.Asp820=
NM_001330579.2:c.2829C>T NP_001317508.1:p.Asp943=
NM_001243182.2:c.2748C>T NP_001230111.1:p.Asp916=
NM_001330578.2:c.2847C>T NP_001317507.1:p.Asp949=