Canonical Allele Identifier: CA483894871
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 456554
ClinVar RCV Id: RCV000549684
dbSNP Id: rs1438628867

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946302G>A , CM000675.2:g.51946302G>A GRCh38
NC_000013.10:g.52520438G>A , CM000675.1:g.52520438G>A GRCh37
NC_000013.9:g.51418439G>A NCBI36
NG_008806.1:g.70193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*875C>T ENSP00000489512.2:n.*875C>T
ENST00000673864.2:c.*1786C>T ENSP00000501045.2:n.*1786C>T
ENST00000674147.2:c.2421C>T ENSP00000500964.2:p.Pro807=
ENST00000242839.10:c.3042C>T MANE Select ENSP00000242839.5:p.Pro1014=
ENST00000344297.9:c.2421C>T ENSP00000342559.5:p.Pro807=
ENST00000400366.6:c.2709C>T ENSP00000383217.3:p.Pro903=
ENST00000448424.7:c.2790C>T ENSP00000416738.3:p.Pro930=
ENST00000673772.1:c.2808C>T ENSP00000501168.1:p.Pro936=
ENST00000673867.1:n.1189C>T
ENST00000674126.1:n.3405C>T
ENST00000674147.1:c.1977C>T ENSP00000500964.1:p.Pro659=
ENST00000242839.8:c.3042C>T ENSP00000242839.4:p.Pro1014=
ENST00000344297.8:c.2421C>T ENSP00000342559.5:p.Pro807=
ENST00000400366.5:c.2709C>T ENSP00000383217.3:p.Pro903=
ENST00000400370.8:c.1752C>T ENSP00000383221.3:p.Pro584=
ENST00000418097.7:c.2866-2011C>T ENSP00000393343.2:n.2866-2011C>T
ENST00000448424.6:c.2808C>T ENSP00000416738.2:p.Pro936=
ENST00000466629.1:n.262C>T
ENST00000634296.1:c.1003C>T
ENST00000634308.1:c.*143C>T ENSP00000489234.1:n.*143C>T
ENST00000634620.1:n.3786C>T
ENST00000634810.1:n.2387C>T
ENST00000634844.1:c.2898C>T ENSP00000489398.1:p.Pro966=
ENST00000635406.1:n.388C>T
NM_000053.3:c.3042C>T NP_000044.2:p.Pro1014=
NM_001005918.2:c.2421C>T NP_001005918.1:p.Pro807=
NM_001243182.1:c.2709C>T NP_001230111.1:p.Pro903=
XM_005266423.2:c.2946C>T XP_005266480.1:p.Pro982=
XM_005266424.3:c.2946C>T XP_005266481.1:p.Pro982=
XM_005266427.2:c.2808C>T XP_005266484.1:p.Pro936=
XM_005266428.1:c.2790C>T XP_005266485.1:p.Pro930=
XM_005266430.3:c.3042C>T XP_005266487.1:p.Pro1014=
XM_005266431.2:c.3006C>T XP_005266488.1:p.Pro1002=
XM_005266432.2:c.2556C>T XP_005266489.1:p.Pro852=
XM_006719837.2:c.2946C>T XP_006719900.1:p.Pro982=
XM_006719838.1:c.858C>T XP_006719901.1:p.Pro286=
XM_006719839.1:c.858C>T XP_006719902.1:p.Pro286=
XM_011535117.1:c.2946C>T XP_011533419.1:p.Pro982=
XM_011535118.1:c.2907C>T XP_011533420.1:p.Pro969=
XM_011535119.1:c.3042C>T XP_011533421.1:p.Pro1014=
XM_011535120.1:c.2628C>T XP_011533422.1:p.Pro876=
XM_011535121.1:c.2730+3705C>T XP_011533423.1:n.2730+3705C>T
XM_011535122.1:c.1710C>T XP_011533424.1:p.Pro570=
XR_941601.1:n.3261C>T
XR_941602.1:n.3261C>T
XR_941603.1:n.3261C>T
XR_941604.1:n.3261C>T
NM_001330578.1:c.2808C>T NP_001317507.1:p.Pro936=
NM_001330579.1:c.2790C>T NP_001317508.1:p.Pro930=
XM_005266424.4:c.2946C>T XP_005266481.1:p.Pro982=
XM_005266430.4:c.3042C>T XP_005266487.1:p.Pro1014=
XM_005266431.4:c.3006C>T XP_005266488.1:p.Pro1002=
XM_006719837.3:c.2946C>T XP_006719900.1:p.Pro982=
XM_011535117.3:c.2946C>T XP_011533419.1:p.Pro982=
XM_017020627.1:c.2946C>T XP_016876116.1:p.Pro982=
NM_000053.4:c.3042C>T MANE Select NP_000044.2:p.Pro1014=
NM_001005918.3:c.2421C>T NP_001005918.1:p.Pro807=
NM_001330579.2:c.2790C>T NP_001317508.1:p.Pro930=
NM_001243182.2:c.2709C>T NP_001230111.1:p.Pro903=
NM_001330578.2:c.2808C>T NP_001317507.1:p.Pro936=