Canonical Allele Identifier: CA6988559
Community Standard Title: NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937527A>G , CM000675.2:g.51937527A>G GRCh38
NC_000013.10:g.52511663A>G , CM000675.1:g.52511663A>G GRCh37
NC_000013.9:g.51409664A>G NCBI36
NG_008806.1:g.78968T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3852T>C MANE Select NP_000044.2:p.Ile1284=
ENST00000242839.10:c.3852T>C MANE Select ENSP00000242839.5:p.Ile1284=
NM_000053.3:c.3852T>C NP_000044.2:p.Ile1284=
NM_001005918.2:c.3231T>C NP_001005918.1:p.Ile1077=
NM_001005918.3:c.3231T>C NP_001005918.1:p.Ile1077=
NM_001243182.1:c.3519T>C NP_001230111.1:p.Ile1173=
NM_001243182.2:c.3519T>C NP_001230111.1:p.Ile1173=
NM_001330578.1:c.3618T>C NP_001317507.1:p.Ile1206=
NM_001330578.2:c.3618T>C NP_001317507.1:p.Ile1206=
NM_001330579.1:c.3600T>C NP_001317508.1:p.Ile1200=
NM_001330579.2:c.3600T>C NP_001317508.1:p.Ile1200=
ENST00000242839.8:c.3852T>C ENSP00000242839.4:p.Ile1284=
ENST00000344297.8:c.3231T>C ENSP00000342559.5:p.Ile1077=
ENST00000344297.9:c.3231T>C ENSP00000342559.5:p.Ile1077=
ENST00000400366.5:c.3519T>C ENSP00000383217.3:p.Ile1173=
ENST00000400366.6:c.3519T>C ENSP00000383217.3:p.Ile1173=
ENST00000400370.8:c.2562T>C ENSP00000383221.3:p.Ile854=
ENST00000418097.7:c.3657T>C ENSP00000393343.2:p.Ile1219=
ENST00000448424.6:c.3618T>C ENSP00000416738.2:p.Ile1206=
ENST00000448424.7:c.3600T>C ENSP00000416738.3:p.Ile1200=
ENST00000634296.1:c.1630T>C
ENST00000634296.2:c.*1502T>C ENSP00000489512.2:n.*1502T>C
ENST00000634308.1:c.*953T>C ENSP00000489234.1:n.*953T>C
ENST00000634620.1:n.4596T>C
ENST00000634810.1:n.3197T>C
ENST00000634844.1:c.3708T>C ENSP00000489398.1:p.Ile1236=
ENST00000673696.1:n.1093T>C
ENST00000673772.1:c.3618T>C ENSP00000501168.1:p.Ile1206=
ENST00000673864.2:c.*2596T>C ENSP00000501045.2:n.*2596T>C
ENST00000673867.1:n.3991T>C
ENST00000673923.1:n.718T>C
ENST00000674147.1:c.2787T>C ENSP00000500964.1:p.Ile929=
ENST00000674147.2:c.3231T>C ENSP00000500964.2:p.Ile1077=
XM_005266423.2:c.3756T>C XP_005266480.1:p.Ile1252=
XM_005266424.3:c.3756T>C XP_005266481.1:p.Ile1252=
XM_005266424.4:c.3756T>C XP_005266481.1:p.Ile1252=
XM_005266427.2:c.3618T>C XP_005266484.1:p.Ile1206=
XM_005266428.1:c.3600T>C XP_005266485.1:p.Ile1200=
XM_005266430.3:c.3852T>C XP_005266487.1:p.Ile1284=
XM_005266430.4:c.3852T>C XP_005266487.1:p.Ile1284=
XM_005266431.2:c.3816T>C XP_005266488.1:p.Ile1272=
XM_005266431.4:c.3816T>C XP_005266488.1:p.Ile1272=
XM_005266432.2:c.3366T>C XP_005266489.1:p.Ile1122=
XM_006719837.2:c.3756T>C XP_006719900.1:p.Ile1252=
XM_006719837.3:c.3756T>C XP_006719900.1:p.Ile1252=
XM_006719838.1:c.1668T>C XP_006719901.1:p.Ile556=
XM_006719839.1:c.1485T>C XP_006719902.1:p.Ile495=
XM_011535117.1:c.3756T>C XP_011533419.1:p.Ile1252=
XM_011535117.3:c.3756T>C XP_011533419.1:p.Ile1252=
XM_011535118.1:c.3717T>C XP_011533420.1:p.Ile1239=
XM_011535119.1:c.3669T>C XP_011533421.1:p.Ile1223=
XM_011535120.1:c.3438T>C XP_011533422.1:p.Ile1146=
XM_011535121.1:c.3339T>C XP_011533423.1:p.Ile1113=
XM_011535122.1:c.2520T>C XP_011533424.1:p.Ile840=
XM_017020627.1:c.3756T>C XP_016876116.1:p.Ile1252=
XR_941601.1:n.4071T>C
XR_941602.1:n.4071T>C
XR_941603.1:n.4071T>C
XR_941604.1:n.4071T>C