Canonical Allele Identifier: CA388026647
Gene: ATP7B HGNC NCBI

Linked Data

dbSNP Id: rs1478510427

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941188T>C , CM000675.2:g.51941188T>C GRCh38
NC_000013.10:g.52515324T>C , CM000675.1:g.52515324T>C GRCh37
NC_000013.9:g.51413325T>C NCBI36
NG_008806.1:g.75307A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1099A>G ENSP00000489512.2:n.*1099A>G
ENST00000673864.2:c.*2193A>G ENSP00000501045.2:n.*2193A>G
ENST00000674147.2:c.2828A>G ENSP00000500964.2:p.Asn943Ser
ENST00000242839.10:c.3449A>G MANE Select ENSP00000242839.5:p.Asn1150Ser
ENST00000344297.9:c.2828A>G ENSP00000342559.5:p.Asn943Ser
ENST00000400366.6:c.3116A>G ENSP00000383217.3:p.Asn1039Ser
ENST00000448424.7:c.3197A>G ENSP00000416738.3:p.Asn1066Ser
ENST00000673772.1:c.3215A>G ENSP00000501168.1:p.Asn1072Ser
ENST00000673867.1:n.3588A>G
ENST00000674126.1:n.3812A>G
ENST00000674147.1:c.2384A>G ENSP00000500964.1:p.Asn795Ser
ENST00000242839.8:c.3449A>G ENSP00000242839.4:p.Asn1150Ser
ENST00000344297.8:c.2828A>G ENSP00000342559.5:p.Asn943Ser
ENST00000400366.5:c.3116A>G ENSP00000383217.3:p.Asn1039Ser
ENST00000400370.8:c.2159A>G ENSP00000383221.3:p.Asn720Ser
ENST00000418097.7:c.3254A>G ENSP00000393343.2:p.Asn1085Ser
ENST00000448424.6:c.3215A>G ENSP00000416738.2:p.Asn1072Ser
ENST00000634296.1:c.1227A>G
ENST00000634308.1:c.*550A>G ENSP00000489234.1:n.*550A>G
ENST00000634620.1:n.4193A>G
ENST00000634810.1:n.2794A>G
ENST00000634844.1:c.3305A>G ENSP00000489398.1:p.Asn1102Ser
NM_000053.3:c.3449A>G NP_000044.2:p.Asn1150Ser
NM_001005918.2:c.2828A>G NP_001005918.1:p.Asn943Ser
NM_001243182.1:c.3116A>G NP_001230111.1:p.Asn1039Ser
XM_005266423.2:c.3353A>G XP_005266480.1:p.Asn1118Ser
XM_005266424.3:c.3353A>G XP_005266481.1:p.Asn1118Ser
XM_005266427.2:c.3215A>G XP_005266484.1:p.Asn1072Ser
XM_005266428.1:c.3197A>G XP_005266485.1:p.Asn1066Ser
XM_005266430.3:c.3449A>G XP_005266487.1:p.Asn1150Ser
XM_005266431.2:c.3413A>G XP_005266488.1:p.Asn1138Ser
XM_005266432.2:c.2963A>G XP_005266489.1:p.Asn988Ser
XM_006719837.2:c.3353A>G XP_006719900.1:p.Asn1118Ser
XM_006719838.1:c.1265A>G XP_006719901.1:p.Asn422Ser
XM_006719839.1:c.1082A>G XP_006719902.1:p.Asn361Ser
XM_011535117.1:c.3353A>G XP_011533419.1:p.Asn1118Ser
XM_011535118.1:c.3314A>G XP_011533420.1:p.Asn1105Ser
XM_011535119.1:c.3266A>G XP_011533421.1:p.Asn1089Ser
XM_011535120.1:c.3035A>G XP_011533422.1:p.Asn1012Ser
XM_011535121.1:c.2936A>G XP_011533423.1:p.Asn979Ser
XM_011535122.1:c.2117A>G XP_011533424.1:p.Asn706Ser
XR_941601.1:n.3668A>G
XR_941602.1:n.3668A>G
XR_941603.1:n.3668A>G
XR_941604.1:n.3668A>G
NM_001330578.1:c.3215A>G NP_001317507.1:p.Asn1072Ser
NM_001330579.1:c.3197A>G NP_001317508.1:p.Asn1066Ser
XM_005266424.4:c.3353A>G XP_005266481.1:p.Asn1118Ser
XM_005266430.4:c.3449A>G XP_005266487.1:p.Asn1150Ser
XM_005266431.4:c.3413A>G XP_005266488.1:p.Asn1138Ser
XM_006719837.3:c.3353A>G XP_006719900.1:p.Asn1118Ser
XM_011535117.3:c.3353A>G XP_011533419.1:p.Asn1118Ser
XM_017020627.1:c.3353A>G XP_016876116.1:p.Asn1118Ser
NM_000053.4:c.3449A>G MANE Select NP_000044.2:p.Asn1150Ser
NM_001005918.3:c.2828A>G NP_001005918.1:p.Asn943Ser
NM_001330579.2:c.3197A>G NP_001317508.1:p.Asn1066Ser
NM_001243182.2:c.3116A>G NP_001230111.1:p.Asn1039Ser
NM_001330578.2:c.3215A>G NP_001317507.1:p.Asn1072Ser