Canonical Allele Identifier: CA388031901
Community Standard Title: NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946315T>G , CM000675.2:g.51946315T>G GRCh38
NC_000013.10:g.52520451T>G , CM000675.1:g.52520451T>G GRCh37
NC_000013.9:g.51418452T>G NCBI36
NG_008806.1:g.70180A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3029A>C MANE Select NP_000044.2:p.Lys1010Thr
ENST00000242839.10:c.3029A>C MANE Select ENSP00000242839.5:p.Lys1010Thr
NM_000053.3:c.3029A>C NP_000044.2:p.Lys1010Thr
NM_001005918.2:c.2408A>C NP_001005918.1:p.Lys803Thr
NM_001005918.3:c.2408A>C NP_001005918.1:p.Lys803Thr
NM_001243182.1:c.2696A>C NP_001230111.1:p.Lys899Thr
NM_001243182.2:c.2696A>C NP_001230111.1:p.Lys899Thr
NM_001330578.1:c.2795A>C NP_001317507.1:p.Lys932Thr
NM_001330578.2:c.2795A>C NP_001317507.1:p.Lys932Thr
NM_001330579.1:c.2777A>C NP_001317508.1:p.Lys926Thr
NM_001330579.2:c.2777A>C NP_001317508.1:p.Lys926Thr
ENST00000242839.8:c.3029A>C ENSP00000242839.4:p.Lys1010Thr
ENST00000344297.8:c.2408A>C ENSP00000342559.5:p.Lys803Thr
ENST00000344297.9:c.2408A>C ENSP00000342559.5:p.Lys803Thr
ENST00000400366.5:c.2696A>C ENSP00000383217.3:p.Lys899Thr
ENST00000400366.6:c.2696A>C ENSP00000383217.3:p.Lys899Thr
ENST00000400370.8:c.1739A>C ENSP00000383221.3:p.Lys580Thr
ENST00000418097.7:c.2866-2024A>C ENSP00000393343.2:n.2866-2024A>C
ENST00000448424.6:c.2795A>C ENSP00000416738.2:p.Lys932Thr
ENST00000448424.7:c.2777A>C ENSP00000416738.3:p.Lys926Thr
ENST00000466629.1:n.249A>C
ENST00000634296.1:c.990A>C
ENST00000634296.2:c.*862A>C ENSP00000489512.2:n.*862A>C
ENST00000634308.1:c.*130A>C ENSP00000489234.1:n.*130A>C
ENST00000634620.1:n.3773A>C
ENST00000634810.1:n.2374A>C
ENST00000634844.1:c.2885A>C ENSP00000489398.1:p.Lys962Thr
ENST00000635406.1:n.375A>C
ENST00000673772.1:c.2795A>C ENSP00000501168.1:p.Lys932Thr
ENST00000673864.2:c.*1773A>C ENSP00000501045.2:n.*1773A>C
ENST00000673867.1:n.1176A>C
ENST00000674126.1:n.3392A>C
ENST00000674147.1:c.1964A>C ENSP00000500964.1:p.Lys655Thr
ENST00000674147.2:c.2408A>C ENSP00000500964.2:p.Lys803Thr
XM_005266423.2:c.2933A>C XP_005266480.1:p.Lys978Thr
XM_005266424.3:c.2933A>C XP_005266481.1:p.Lys978Thr
XM_005266424.4:c.2933A>C XP_005266481.1:p.Lys978Thr
XM_005266427.2:c.2795A>C XP_005266484.1:p.Lys932Thr
XM_005266428.1:c.2777A>C XP_005266485.1:p.Lys926Thr
XM_005266430.3:c.3029A>C XP_005266487.1:p.Lys1010Thr
XM_005266430.4:c.3029A>C XP_005266487.1:p.Lys1010Thr
XM_005266431.2:c.2993A>C XP_005266488.1:p.Lys998Thr
XM_005266431.4:c.2993A>C XP_005266488.1:p.Lys998Thr
XM_005266432.2:c.2543A>C XP_005266489.1:p.Lys848Thr
XM_006719837.2:c.2933A>C XP_006719900.1:p.Lys978Thr
XM_006719837.3:c.2933A>C XP_006719900.1:p.Lys978Thr
XM_006719838.1:c.845A>C XP_006719901.1:p.Lys282Thr
XM_006719839.1:c.845A>C XP_006719902.1:p.Lys282Thr
XM_011535117.1:c.2933A>C XP_011533419.1:p.Lys978Thr
XM_011535117.3:c.2933A>C XP_011533419.1:p.Lys978Thr
XM_011535118.1:c.2894A>C XP_011533420.1:p.Lys965Thr
XM_011535119.1:c.3029A>C XP_011533421.1:p.Lys1010Thr
XM_011535120.1:c.2615A>C XP_011533422.1:p.Lys872Thr
XM_011535121.1:c.2730+3692A>C XP_011533423.1:n.2730+3692A>C
XM_011535122.1:c.1697A>C XP_011533424.1:p.Lys566Thr
XM_017020627.1:c.2933A>C XP_016876116.1:p.Lys978Thr
XR_941601.1:n.3248A>C
XR_941602.1:n.3248A>C
XR_941603.1:n.3248A>C
XR_941604.1:n.3248A>C