Canonical Allele Identifier: CA388020094
Community Standard Title: NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51935633A>C , CM000675.2:g.51935633A>C GRCh38
NC_000013.10:g.52509769A>C , CM000675.1:g.52509769A>C GRCh37
NC_000013.9:g.51407770A>C NCBI36
NG_008806.1:g.80862T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4084T>G MANE Select NP_000044.2:p.Ser1362Ala
ENST00000242839.10:c.4084T>G MANE Select ENSP00000242839.5:p.Ser1362Ala
NM_000053.3:c.4084T>G NP_000044.2:p.Ser1362Ala
NM_001005918.2:c.3463T>G NP_001005918.1:p.Ser1155Ala
NM_001005918.3:c.3463T>G NP_001005918.1:p.Ser1155Ala
NM_001243182.1:c.3751T>G NP_001230111.1:p.Ser1251Ala
NM_001243182.2:c.3751T>G NP_001230111.1:p.Ser1251Ala
NM_001330578.1:c.3850T>G NP_001317507.1:p.Ser1284Ala
NM_001330578.2:c.3850T>G NP_001317507.1:p.Ser1284Ala
NM_001330579.1:c.3832T>G NP_001317508.1:p.Ser1278Ala
NM_001330579.2:c.3832T>G NP_001317508.1:p.Ser1278Ala
ENST00000242839.8:c.4084T>G ENSP00000242839.4:p.Ser1362Ala
ENST00000344297.8:c.3463T>G ENSP00000342559.5:p.Ser1155Ala
ENST00000344297.9:c.3463T>G ENSP00000342559.5:p.Ser1155Ala
ENST00000400366.5:c.3751T>G ENSP00000383217.3:p.Ser1251Ala
ENST00000400366.6:c.3751T>G ENSP00000383217.3:p.Ser1251Ala
ENST00000400370.8:c.2794T>G ENSP00000383221.3:p.Ser932Ala
ENST00000418097.7:c.3889T>G ENSP00000393343.2:p.Ser1297Ala
ENST00000448424.6:c.3850T>G ENSP00000416738.2:p.Ser1284Ala
ENST00000448424.7:c.3832T>G ENSP00000416738.3:p.Ser1278Ala
ENST00000634296.1:c.1862T>G
ENST00000634296.2:c.*1734T>G ENSP00000489512.2:n.*1734T>G
ENST00000634308.1:c.*1185T>G ENSP00000489234.1:n.*1185T>G
ENST00000634620.1:n.4828T>G
ENST00000634810.1:n.3429T>G
ENST00000634844.1:c.3940T>G ENSP00000489398.1:p.Ser1314Ala
ENST00000673696.1:n.1407T>G
ENST00000673772.1:c.3850T>G ENSP00000501168.1:p.Ser1284Ala
ENST00000673864.2:c.*2828T>G ENSP00000501045.2:n.*2828T>G
ENST00000673867.1:n.4223T>G
ENST00000673923.1:n.950T>G
ENST00000674147.1:c.3019T>G ENSP00000500964.1:p.Ser1007Ala
ENST00000674147.2:c.3463T>G ENSP00000500964.2:p.Ser1155Ala
XM_005266423.2:c.3988T>G XP_005266480.1:p.Ser1330Ala
XM_005266424.3:c.3988T>G XP_005266481.1:p.Ser1330Ala
XM_005266424.4:c.3988T>G XP_005266481.1:p.Ser1330Ala
XM_005266427.2:c.3850T>G XP_005266484.1:p.Ser1284Ala
XM_005266428.1:c.3832T>G XP_005266485.1:p.Ser1278Ala
XM_005266430.3:c.4084T>G XP_005266487.1:p.Ser1362Ala
XM_005266430.4:c.4084T>G XP_005266487.1:p.Ser1362Ala
XM_005266431.2:c.4048T>G XP_005266488.1:p.Ser1350Ala
XM_005266431.4:c.4048T>G XP_005266488.1:p.Ser1350Ala
XM_005266432.2:c.3598T>G XP_005266489.1:p.Ser1200Ala
XM_006719837.2:c.3988T>G XP_006719900.1:p.Ser1330Ala
XM_006719837.3:c.3988T>G XP_006719900.1:p.Ser1330Ala
XM_006719838.1:c.1900T>G XP_006719901.1:p.Ser634Ala
XM_006719839.1:c.1717T>G XP_006719902.1:p.Ser573Ala
XM_011535117.1:c.3988T>G XP_011533419.1:p.Ser1330Ala
XM_011535117.3:c.3988T>G XP_011533419.1:p.Ser1330Ala
XM_011535118.1:c.3949T>G XP_011533420.1:p.Ser1317Ala
XM_011535119.1:c.3901T>G XP_011533421.1:p.Ser1301Ala
XM_011535120.1:c.3670T>G XP_011533422.1:p.Ser1224Ala
XM_011535121.1:c.3571T>G XP_011533423.1:p.Ser1191Ala
XM_011535122.1:c.2752T>G XP_011533424.1:p.Ser918Ala
XM_017020627.1:c.3988T>G XP_016876116.1:p.Ser1330Ala
XR_941601.1:n.4303T>G
XR_941602.1:n.4303T>G
XR_941603.1:n.4303T>G
XR_941604.1:n.4303T>G