Canonical Allele Identifier: CA250080312
Community Standard Title: NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944290A>T , CM000675.2:g.51944290A>T GRCh38
NC_000013.10:g.52518426A>T , CM000675.1:g.52518426A>T GRCh37
NC_000013.9:g.51416427A>T NCBI36
NG_008806.1:g.72205T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3062T>A MANE Select NP_000044.2:p.Ile1021Lys
ENST00000242839.10:c.3062T>A MANE Select ENSP00000242839.5:p.Ile1021Lys
NM_000053.3:c.3062T>A NP_000044.2:p.Ile1021Lys
NM_001005918.2:c.2441T>A NP_001005918.1:p.Ile814Lys
NM_001005918.3:c.2441T>A NP_001005918.1:p.Ile814Lys
NM_001243182.1:c.2729T>A NP_001230111.1:p.Ile910Lys
NM_001243182.2:c.2729T>A NP_001230111.1:p.Ile910Lys
NM_001330578.1:c.2828T>A NP_001317507.1:p.Ile943Lys
NM_001330578.2:c.2828T>A NP_001317507.1:p.Ile943Lys
NM_001330579.1:c.2810T>A NP_001317508.1:p.Ile937Lys
NM_001330579.2:c.2810T>A NP_001317508.1:p.Ile937Lys
ENST00000242839.8:c.3062T>A ENSP00000242839.4:p.Ile1021Lys
ENST00000344297.8:c.2441T>A ENSP00000342559.5:p.Ile814Lys
ENST00000344297.9:c.2441T>A ENSP00000342559.5:p.Ile814Lys
ENST00000400366.5:c.2729T>A ENSP00000383217.3:p.Ile910Lys
ENST00000400366.6:c.2729T>A ENSP00000383217.3:p.Ile910Lys
ENST00000400370.8:c.1772T>A ENSP00000383221.3:p.Ile591Lys
ENST00000418097.7:c.2867T>A ENSP00000393343.2:p.Ile956Lys
ENST00000448424.6:c.2828T>A ENSP00000416738.2:p.Ile943Lys
ENST00000448424.7:c.2810T>A ENSP00000416738.3:p.Ile937Lys
ENST00000466629.1:n.282T>A
ENST00000634296.1:c.1022-1736T>A
ENST00000634296.2:c.*894-1736T>A ENSP00000489512.2:n.*894-1736T>A
ENST00000634308.1:c.*163T>A ENSP00000489234.1:n.*163T>A
ENST00000634620.1:n.3806T>A
ENST00000634810.1:n.2407T>A
ENST00000634844.1:c.2918T>A ENSP00000489398.1:p.Ile973Lys
ENST00000635406.1:n.408T>A
ENST00000673772.1:c.2828T>A ENSP00000501168.1:p.Ile943Lys
ENST00000673864.2:c.*1806T>A ENSP00000501045.2:n.*1806T>A
ENST00000673867.1:n.3201T>A
ENST00000674126.1:n.3425T>A
ENST00000674147.1:c.1997T>A ENSP00000500964.1:p.Ile666Lys
ENST00000674147.2:c.2441T>A ENSP00000500964.2:p.Ile814Lys
XM_005266423.2:c.2966T>A XP_005266480.1:p.Ile989Lys
XM_005266424.3:c.2966T>A XP_005266481.1:p.Ile989Lys
XM_005266424.4:c.2966T>A XP_005266481.1:p.Ile989Lys
XM_005266427.2:c.2828T>A XP_005266484.1:p.Ile943Lys
XM_005266428.1:c.2810T>A XP_005266485.1:p.Ile937Lys
XM_005266430.3:c.3062T>A XP_005266487.1:p.Ile1021Lys
XM_005266430.4:c.3062T>A XP_005266487.1:p.Ile1021Lys
XM_005266431.2:c.3026T>A XP_005266488.1:p.Ile1009Lys
XM_005266431.4:c.3026T>A XP_005266488.1:p.Ile1009Lys
XM_005266432.2:c.2576T>A XP_005266489.1:p.Ile859Lys
XM_006719837.2:c.2966T>A XP_006719900.1:p.Ile989Lys
XM_006719837.3:c.2966T>A XP_006719900.1:p.Ile989Lys
XM_006719838.1:c.878T>A XP_006719901.1:p.Ile293Lys
XM_006719839.1:c.877-1736T>A XP_006719902.1:n.877-1736T>A
XM_011535117.1:c.2966T>A XP_011533419.1:p.Ile989Lys
XM_011535117.3:c.2966T>A XP_011533419.1:p.Ile989Lys
XM_011535118.1:c.2927T>A XP_011533420.1:p.Ile976Lys
XM_011535119.1:c.3061-1736T>A XP_011533421.1:n.3061-1736T>A
XM_011535120.1:c.2648T>A XP_011533422.1:p.Ile883Lys
XM_011535121.1:c.2731-1736T>A XP_011533423.1:n.2731-1736T>A
XM_011535122.1:c.1730T>A XP_011533424.1:p.Ile577Lys
XM_017020627.1:c.2966T>A XP_016876116.1:p.Ile989Lys
XR_941601.1:n.3281T>A
XR_941602.1:n.3281T>A
XR_941603.1:n.3281T>A
XR_941604.1:n.3281T>A