Canonical Allele Identifier: CA388027940
Community Standard Title: NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942425T>C , CM000675.2:g.51942425T>C GRCh38
NC_000013.10:g.52516561T>C , CM000675.1:g.52516561T>C GRCh37
NC_000013.9:g.51414562T>C NCBI36
NG_008806.1:g.74070A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3373A>G MANE Select NP_000044.2:p.Ser1125Gly
ENST00000242839.10:c.3373A>G MANE Select ENSP00000242839.5:p.Ser1125Gly
NM_000053.3:c.3373A>G NP_000044.2:p.Ser1125Gly
NM_001005918.2:c.2752A>G NP_001005918.1:p.Ser918Gly
NM_001005918.3:c.2752A>G NP_001005918.1:p.Ser918Gly
NM_001243182.1:c.3040A>G NP_001230111.1:p.Ser1014Gly
NM_001243182.2:c.3040A>G NP_001230111.1:p.Ser1014Gly
NM_001330578.1:c.3139A>G NP_001317507.1:p.Ser1047Gly
NM_001330578.2:c.3139A>G NP_001317507.1:p.Ser1047Gly
NM_001330579.1:c.3121A>G NP_001317508.1:p.Ser1041Gly
NM_001330579.2:c.3121A>G NP_001317508.1:p.Ser1041Gly
ENST00000242839.8:c.3373A>G ENSP00000242839.4:p.Ser1125Gly
ENST00000344297.8:c.2752A>G ENSP00000342559.5:p.Ser918Gly
ENST00000344297.9:c.2752A>G ENSP00000342559.5:p.Ser918Gly
ENST00000400366.5:c.3040A>G ENSP00000383217.3:p.Ser1014Gly
ENST00000400366.6:c.3040A>G ENSP00000383217.3:p.Ser1014Gly
ENST00000400370.8:c.2083A>G ENSP00000383221.3:p.Ser695Gly
ENST00000418097.7:c.3178A>G ENSP00000393343.2:p.Ser1060Gly
ENST00000448424.6:c.3139A>G ENSP00000416738.2:p.Ser1047Gly
ENST00000448424.7:c.3121A>G ENSP00000416738.3:p.Ser1041Gly
ENST00000634296.1:c.1151A>G
ENST00000634296.2:c.*1023A>G ENSP00000489512.2:n.*1023A>G
ENST00000634308.1:c.*474A>G ENSP00000489234.1:n.*474A>G
ENST00000634620.1:n.4117A>G
ENST00000634810.1:n.2718A>G
ENST00000634844.1:c.3229A>G ENSP00000489398.1:p.Ser1077Gly
ENST00000673772.1:c.3139A>G ENSP00000501168.1:p.Ser1047Gly
ENST00000673864.2:c.*2117A>G ENSP00000501045.2:n.*2117A>G
ENST00000673867.1:n.3512A>G
ENST00000674126.1:n.3736A>G
ENST00000674147.1:c.2308A>G ENSP00000500964.1:p.Ser770Gly
ENST00000674147.2:c.2752A>G ENSP00000500964.2:p.Ser918Gly
XM_005266423.2:c.3277A>G XP_005266480.1:p.Ser1093Gly
XM_005266424.3:c.3277A>G XP_005266481.1:p.Ser1093Gly
XM_005266424.4:c.3277A>G XP_005266481.1:p.Ser1093Gly
XM_005266427.2:c.3139A>G XP_005266484.1:p.Ser1047Gly
XM_005266428.1:c.3121A>G XP_005266485.1:p.Ser1041Gly
XM_005266430.3:c.3373A>G XP_005266487.1:p.Ser1125Gly
XM_005266430.4:c.3373A>G XP_005266487.1:p.Ser1125Gly
XM_005266431.2:c.3337A>G XP_005266488.1:p.Ser1113Gly
XM_005266431.4:c.3337A>G XP_005266488.1:p.Ser1113Gly
XM_005266432.2:c.2887A>G XP_005266489.1:p.Ser963Gly
XM_006719837.2:c.3277A>G XP_006719900.1:p.Ser1093Gly
XM_006719837.3:c.3277A>G XP_006719900.1:p.Ser1093Gly
XM_006719838.1:c.1189A>G XP_006719901.1:p.Ser397Gly
XM_006719839.1:c.1006A>G XP_006719902.1:p.Ser336Gly
XM_011535117.1:c.3277A>G XP_011533419.1:p.Ser1093Gly
XM_011535117.3:c.3277A>G XP_011533419.1:p.Ser1093Gly
XM_011535118.1:c.3238A>G XP_011533420.1:p.Ser1080Gly
XM_011535119.1:c.3190A>G XP_011533421.1:p.Ser1064Gly
XM_011535120.1:c.2959A>G XP_011533422.1:p.Ser987Gly
XM_011535121.1:c.2860A>G XP_011533423.1:p.Ser954Gly
XM_011535122.1:c.2041A>G XP_011533424.1:p.Ser681Gly
XM_017020627.1:c.3277A>G XP_016876116.1:p.Ser1093Gly
XR_941601.1:n.3592A>G
XR_941602.1:n.3592A>G
XR_941603.1:n.3592A>G
XR_941604.1:n.3592A>G