Canonical Allele Identifier: CA6988610
Community Standard Title: NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51939062T>G , CM000675.2:g.51939062T>G GRCh38
NC_000013.10:g.52513198T>G , CM000675.1:g.52513198T>G GRCh37
NC_000013.9:g.51411199T>G NCBI36
NG_008806.1:g.77433A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3688A>C MANE Select NP_000044.2:p.Ile1230Leu
ENST00000242839.10:c.3688A>C MANE Select ENSP00000242839.5:p.Ile1230Leu
NM_000053.3:c.3688A>C NP_000044.2:p.Ile1230Leu
NM_001005918.2:c.3067A>C NP_001005918.1:p.Ile1023Leu
NM_001005918.3:c.3067A>C NP_001005918.1:p.Ile1023Leu
NM_001243182.1:c.3355A>C NP_001230111.1:p.Ile1119Leu
NM_001243182.2:c.3355A>C NP_001230111.1:p.Ile1119Leu
NM_001330578.1:c.3454A>C NP_001317507.1:p.Ile1152Leu
NM_001330578.2:c.3454A>C NP_001317507.1:p.Ile1152Leu
NM_001330579.1:c.3436A>C NP_001317508.1:p.Ile1146Leu
NM_001330579.2:c.3436A>C NP_001317508.1:p.Ile1146Leu
ENST00000242839.8:c.3688A>C ENSP00000242839.4:p.Ile1230Leu
ENST00000344297.8:c.3067A>C ENSP00000342559.5:p.Ile1023Leu
ENST00000344297.9:c.3067A>C ENSP00000342559.5:p.Ile1023Leu
ENST00000400366.5:c.3355A>C ENSP00000383217.3:p.Ile1119Leu
ENST00000400366.6:c.3355A>C ENSP00000383217.3:p.Ile1119Leu
ENST00000400370.8:c.2398A>C ENSP00000383221.3:p.Ile800Leu
ENST00000418097.7:c.3493A>C ENSP00000393343.2:p.Ile1165Leu
ENST00000448424.6:c.3454A>C ENSP00000416738.2:p.Ile1152Leu
ENST00000448424.7:c.3436A>C ENSP00000416738.3:p.Ile1146Leu
ENST00000634296.1:c.1466A>C
ENST00000634296.2:c.*1338A>C ENSP00000489512.2:n.*1338A>C
ENST00000634308.1:c.*789A>C ENSP00000489234.1:n.*789A>C
ENST00000634620.1:n.4432A>C
ENST00000634810.1:n.3033A>C
ENST00000634844.1:c.3544A>C ENSP00000489398.1:p.Ile1182Leu
ENST00000673696.1:n.929A>C
ENST00000673772.1:c.3454A>C ENSP00000501168.1:p.Ile1152Leu
ENST00000673864.2:c.*2432A>C ENSP00000501045.2:n.*2432A>C
ENST00000673867.1:n.3827A>C
ENST00000673923.1:n.554A>C
ENST00000674147.1:c.2623A>C ENSP00000500964.1:p.Ile875Leu
ENST00000674147.2:c.3067A>C ENSP00000500964.2:p.Ile1023Leu
XM_005266423.2:c.3592A>C XP_005266480.1:p.Ile1198Leu
XM_005266424.3:c.3592A>C XP_005266481.1:p.Ile1198Leu
XM_005266424.4:c.3592A>C XP_005266481.1:p.Ile1198Leu
XM_005266427.2:c.3454A>C XP_005266484.1:p.Ile1152Leu
XM_005266428.1:c.3436A>C XP_005266485.1:p.Ile1146Leu
XM_005266430.3:c.3688A>C XP_005266487.1:p.Ile1230Leu
XM_005266430.4:c.3688A>C XP_005266487.1:p.Ile1230Leu
XM_005266431.2:c.3652A>C XP_005266488.1:p.Ile1218Leu
XM_005266431.4:c.3652A>C XP_005266488.1:p.Ile1218Leu
XM_005266432.2:c.3202A>C XP_005266489.1:p.Ile1068Leu
XM_006719837.2:c.3592A>C XP_006719900.1:p.Ile1198Leu
XM_006719837.3:c.3592A>C XP_006719900.1:p.Ile1198Leu
XM_006719838.1:c.1504A>C XP_006719901.1:p.Ile502Leu
XM_006719839.1:c.1321A>C XP_006719902.1:p.Ile441Leu
XM_011535117.1:c.3592A>C XP_011533419.1:p.Ile1198Leu
XM_011535117.3:c.3592A>C XP_011533419.1:p.Ile1198Leu
XM_011535118.1:c.3553A>C XP_011533420.1:p.Ile1185Leu
XM_011535119.1:c.3505A>C XP_011533421.1:p.Ile1169Leu
XM_011535120.1:c.3274A>C XP_011533422.1:p.Ile1092Leu
XM_011535121.1:c.3175A>C XP_011533423.1:p.Ile1059Leu
XM_011535122.1:c.2356A>C XP_011533424.1:p.Ile786Leu
XM_017020627.1:c.3592A>C XP_016876116.1:p.Ile1198Leu
XR_941601.1:n.3907A>C
XR_941602.1:n.3907A>C
XR_941603.1:n.3907A>C
XR_941604.1:n.3907A>C