Canonical Allele Identifier: CA16041663
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 371387
dbSNP Id: rs1057517233

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937395T>C , CM000675.2:g.51937395T>C GRCh38
NC_000013.10:g.52511531T>C , CM000675.1:g.52511531T>C GRCh37
NC_000013.9:g.51409532T>C NCBI36
NG_008806.1:g.79100A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*1554-2A>G ENSP00000489512.2:n.*1554-2A>G
ENST00000673864.2:c.*2648-2A>G ENSP00000501045.2:n.*2648-2A>G
ENST00000674147.2:c.3283-2A>G ENSP00000500964.2:n.3283-2A>G
ENST00000242839.10:c.3904-2A>G MANE Select ENSP00000242839.5:n.3904-2A>G
ENST00000344297.9:c.3283-2A>G ENSP00000342559.5:n.3283-2A>G
ENST00000400366.6:c.3571-2A>G ENSP00000383217.3:n.3571-2A>G
ENST00000448424.7:c.3652-2A>G ENSP00000416738.3:n.3652-2A>G
ENST00000673696.1:n.1225A>G
ENST00000673772.1:c.3670-2A>G ENSP00000501168.1:n.3670-2A>G
ENST00000673867.1:n.4043-2A>G
ENST00000673923.1:n.770-2A>G
ENST00000674147.1:c.2839-2A>G ENSP00000500964.1:n.2839-2A>G
ENST00000242839.8:c.3904-2A>G ENSP00000242839.4:n.3904-2A>G
ENST00000344297.8:c.3283-2A>G ENSP00000342559.5:n.3283-2A>G
ENST00000400366.5:c.3571-2A>G ENSP00000383217.3:n.3571-2A>G
ENST00000400370.8:c.2614-2A>G ENSP00000383221.3:n.2614-2A>G
ENST00000418097.7:c.3709-2A>G ENSP00000393343.2:n.3709-2A>G
ENST00000448424.6:c.3670-2A>G ENSP00000416738.2:n.3670-2A>G
ENST00000634296.1:c.1682-2A>G
ENST00000634308.1:c.*1005-2A>G ENSP00000489234.1:n.*1005-2A>G
ENST00000634620.1:n.4648-2A>G
ENST00000634810.1:n.3249-2A>G
ENST00000634844.1:c.3760-2A>G ENSP00000489398.1:n.3760-2A>G
NM_000053.3:c.3904-2A>G NP_000044.2:n.3904-2A>G
NM_001005918.2:c.3283-2A>G NP_001005918.1:n.3283-2A>G
NM_001243182.1:c.3571-2A>G NP_001230111.1:n.3571-2A>G
XM_005266423.2:c.3808-2A>G XP_005266480.1:n.3808-2A>G
XM_005266424.3:c.3808-2A>G XP_005266481.1:n.3808-2A>G
XM_005266427.2:c.3670-2A>G XP_005266484.1:n.3670-2A>G
XM_005266428.1:c.3652-2A>G XP_005266485.1:n.3652-2A>G
XM_005266430.3:c.3904-2A>G XP_005266487.1:n.3904-2A>G
XM_005266431.2:c.3868-2A>G XP_005266488.1:n.3868-2A>G
XM_005266432.2:c.3418-2A>G XP_005266489.1:n.3418-2A>G
XM_006719837.2:c.3808-2A>G XP_006719900.1:n.3808-2A>G
XM_006719838.1:c.1720-2A>G XP_006719901.1:n.1720-2A>G
XM_006719839.1:c.1537-2A>G XP_006719902.1:n.1537-2A>G
XM_011535117.1:c.3808-2A>G XP_011533419.1:n.3808-2A>G
XM_011535118.1:c.3769-2A>G XP_011533420.1:n.3769-2A>G
XM_011535119.1:c.3721-2A>G XP_011533421.1:n.3721-2A>G
XM_011535120.1:c.3490-2A>G XP_011533422.1:n.3490-2A>G
XM_011535121.1:c.3391-2A>G XP_011533423.1:n.3391-2A>G
XM_011535122.1:c.2572-2A>G XP_011533424.1:n.2572-2A>G
XR_941601.1:n.4123-2A>G
XR_941602.1:n.4123-2A>G
XR_941603.1:n.4123-2A>G
XR_941604.1:n.4123-2A>G
NM_001330578.1:c.3670-2A>G NP_001317507.1:n.3670-2A>G
NM_001330579.1:c.3652-2A>G NP_001317508.1:n.3652-2A>G
XM_005266424.4:c.3808-2A>G XP_005266481.1:n.3808-2A>G
XM_005266430.4:c.3904-2A>G XP_005266487.1:n.3904-2A>G
XM_005266431.4:c.3868-2A>G XP_005266488.1:n.3868-2A>G
XM_006719837.3:c.3808-2A>G XP_006719900.1:n.3808-2A>G
XM_011535117.3:c.3808-2A>G XP_011533419.1:n.3808-2A>G
XM_017020627.1:c.3808-2A>G XP_016876116.1:n.3808-2A>G
NM_000053.4:c.3904-2A>G MANE Select NP_000044.2:n.3904-2A>G
NM_001005918.3:c.3283-2A>G NP_001005918.1:n.3283-2A>G
NM_001330579.2:c.3652-2A>G NP_001317508.1:n.3652-2A>G
NM_001243182.2:c.3571-2A>G NP_001230111.1:n.3571-2A>G
NM_001330578.2:c.3670-2A>G NP_001317507.1:n.3670-2A>G