Canonical Allele Identifier: CA6988522
Community Standard Title: NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937326T>C , CM000675.2:g.51937326T>C GRCh38
NC_000013.10:g.52511462T>C , CM000675.1:g.52511462T>C GRCh37
NC_000013.9:g.51409463T>C NCBI36
NG_008806.1:g.79169A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3971A>G MANE Select NP_000044.2:p.Asn1324Ser
ENST00000242839.10:c.3971A>G MANE Select ENSP00000242839.5:p.Asn1324Ser
NM_000053.3:c.3971A>G NP_000044.2:p.Asn1324Ser
NM_001005918.2:c.3350A>G NP_001005918.1:p.Asn1117Ser
NM_001005918.3:c.3350A>G NP_001005918.1:p.Asn1117Ser
NM_001243182.1:c.3638A>G NP_001230111.1:p.Asn1213Ser
NM_001243182.2:c.3638A>G NP_001230111.1:p.Asn1213Ser
NM_001330578.1:c.3737A>G NP_001317507.1:p.Asn1246Ser
NM_001330578.2:c.3737A>G NP_001317507.1:p.Asn1246Ser
NM_001330579.1:c.3719A>G NP_001317508.1:p.Asn1240Ser
NM_001330579.2:c.3719A>G NP_001317508.1:p.Asn1240Ser
ENST00000242839.8:c.3971A>G ENSP00000242839.4:p.Asn1324Ser
ENST00000344297.8:c.3350A>G ENSP00000342559.5:p.Asn1117Ser
ENST00000344297.9:c.3350A>G ENSP00000342559.5:p.Asn1117Ser
ENST00000400366.5:c.3638A>G ENSP00000383217.3:p.Asn1213Ser
ENST00000400366.6:c.3638A>G ENSP00000383217.3:p.Asn1213Ser
ENST00000400370.8:c.2681A>G ENSP00000383221.3:p.Asn894Ser
ENST00000418097.7:c.3776A>G ENSP00000393343.2:p.Asn1259Ser
ENST00000448424.6:c.3737A>G ENSP00000416738.2:p.Asn1246Ser
ENST00000448424.7:c.3719A>G ENSP00000416738.3:p.Asn1240Ser
ENST00000634296.1:c.1749A>G
ENST00000634296.2:c.*1621A>G ENSP00000489512.2:n.*1621A>G
ENST00000634308.1:c.*1072A>G ENSP00000489234.1:n.*1072A>G
ENST00000634620.1:n.4715A>G
ENST00000634810.1:n.3316A>G
ENST00000634844.1:c.3827A>G ENSP00000489398.1:p.Asn1276Ser
ENST00000673696.1:n.1294A>G
ENST00000673772.1:c.3737A>G ENSP00000501168.1:p.Asn1246Ser
ENST00000673864.2:c.*2715A>G ENSP00000501045.2:n.*2715A>G
ENST00000673867.1:n.4110A>G
ENST00000673923.1:n.837A>G
ENST00000674147.1:c.2906A>G ENSP00000500964.1:p.Asn969Ser
ENST00000674147.2:c.3350A>G ENSP00000500964.2:p.Asn1117Ser
XM_005266423.2:c.3875A>G XP_005266480.1:p.Asn1292Ser
XM_005266424.3:c.3875A>G XP_005266481.1:p.Asn1292Ser
XM_005266424.4:c.3875A>G XP_005266481.1:p.Asn1292Ser
XM_005266427.2:c.3737A>G XP_005266484.1:p.Asn1246Ser
XM_005266428.1:c.3719A>G XP_005266485.1:p.Asn1240Ser
XM_005266430.3:c.3971A>G XP_005266487.1:p.Asn1324Ser
XM_005266430.4:c.3971A>G XP_005266487.1:p.Asn1324Ser
XM_005266431.2:c.3935A>G XP_005266488.1:p.Asn1312Ser
XM_005266431.4:c.3935A>G XP_005266488.1:p.Asn1312Ser
XM_005266432.2:c.3485A>G XP_005266489.1:p.Asn1162Ser
XM_006719837.2:c.3875A>G XP_006719900.1:p.Asn1292Ser
XM_006719837.3:c.3875A>G XP_006719900.1:p.Asn1292Ser
XM_006719838.1:c.1787A>G XP_006719901.1:p.Asn596Ser
XM_006719839.1:c.1604A>G XP_006719902.1:p.Asn535Ser
XM_011535117.1:c.3875A>G XP_011533419.1:p.Asn1292Ser
XM_011535117.3:c.3875A>G XP_011533419.1:p.Asn1292Ser
XM_011535118.1:c.3836A>G XP_011533420.1:p.Asn1279Ser
XM_011535119.1:c.3788A>G XP_011533421.1:p.Asn1263Ser
XM_011535120.1:c.3557A>G XP_011533422.1:p.Asn1186Ser
XM_011535121.1:c.3458A>G XP_011533423.1:p.Asn1153Ser
XM_011535122.1:c.2639A>G XP_011533424.1:p.Asn880Ser
XM_017020627.1:c.3875A>G XP_016876116.1:p.Asn1292Ser
XR_941601.1:n.4190A>G
XR_941602.1:n.4190A>G
XR_941603.1:n.4190A>G
XR_941604.1:n.4190A>G