Canonical Allele Identifier: CA388032391
Community Standard Title: NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946420G>A , CM000675.2:g.51946420G>A GRCh38
NC_000013.10:g.52520556G>A , CM000675.1:g.52520556G>A GRCh37
NC_000013.9:g.51418557G>A NCBI36
NG_008806.1:g.70075C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2924C>T MANE Select NP_000044.2:p.Ser975Phe
ENST00000242839.10:c.2924C>T MANE Select ENSP00000242839.5:p.Ser975Phe
NM_000053.3:c.2924C>T NP_000044.2:p.Ser975Phe
NM_001005918.2:c.2303C>T NP_001005918.1:p.Ser768Phe
NM_001005918.3:c.2303C>T NP_001005918.1:p.Ser768Phe
NM_001243182.1:c.2591C>T NP_001230111.1:p.Ser864Phe
NM_001243182.2:c.2591C>T NP_001230111.1:p.Ser864Phe
NM_001330578.1:c.2690C>T NP_001317507.1:p.Ser897Phe
NM_001330578.2:c.2690C>T NP_001317507.1:p.Ser897Phe
NM_001330579.1:c.2672C>T NP_001317508.1:p.Ser891Phe
NM_001330579.2:c.2672C>T NP_001317508.1:p.Ser891Phe
ENST00000242839.8:c.2924C>T ENSP00000242839.4:p.Ser975Phe
ENST00000344297.8:c.2303C>T ENSP00000342559.5:p.Ser768Phe
ENST00000344297.9:c.2303C>T ENSP00000342559.5:p.Ser768Phe
ENST00000400366.5:c.2591C>T ENSP00000383217.3:p.Ser864Phe
ENST00000400366.6:c.2591C>T ENSP00000383217.3:p.Ser864Phe
ENST00000400370.8:c.1634C>T ENSP00000383221.3:p.Ser545Phe
ENST00000418097.7:c.2866-2129C>T ENSP00000393343.2:n.2866-2129C>T
ENST00000448424.6:c.2690C>T ENSP00000416738.2:p.Ser897Phe
ENST00000448424.7:c.2672C>T ENSP00000416738.3:p.Ser891Phe
ENST00000466629.1:n.144C>T
ENST00000634296.1:c.885C>T
ENST00000634296.2:c.*757C>T ENSP00000489512.2:n.*757C>T
ENST00000634308.1:c.*25C>T ENSP00000489234.1:n.*25C>T
ENST00000634620.1:n.3668C>T
ENST00000634810.1:n.2269C>T
ENST00000634844.1:c.2780C>T ENSP00000489398.1:p.Ser927Phe
ENST00000635406.1:n.270C>T
ENST00000673772.1:c.2690C>T ENSP00000501168.1:p.Ser897Phe
ENST00000673864.2:c.*1668C>T ENSP00000501045.2:n.*1668C>T
ENST00000673867.1:n.1071C>T
ENST00000674126.1:n.3287C>T
ENST00000674147.1:c.1859C>T ENSP00000500964.1:p.Ser620Phe
ENST00000674147.2:c.2303C>T ENSP00000500964.2:p.Ser768Phe
XM_005266423.2:c.2828C>T XP_005266480.1:p.Ser943Phe
XM_005266424.3:c.2828C>T XP_005266481.1:p.Ser943Phe
XM_005266424.4:c.2828C>T XP_005266481.1:p.Ser943Phe
XM_005266427.2:c.2690C>T XP_005266484.1:p.Ser897Phe
XM_005266428.1:c.2672C>T XP_005266485.1:p.Ser891Phe
XM_005266430.3:c.2924C>T XP_005266487.1:p.Ser975Phe
XM_005266430.4:c.2924C>T XP_005266487.1:p.Ser975Phe
XM_005266431.2:c.2888C>T XP_005266488.1:p.Ser963Phe
XM_005266431.4:c.2888C>T XP_005266488.1:p.Ser963Phe
XM_005266432.2:c.2438C>T XP_005266489.1:p.Ser813Phe
XM_006719837.2:c.2828C>T XP_006719900.1:p.Ser943Phe
XM_006719837.3:c.2828C>T XP_006719900.1:p.Ser943Phe
XM_006719838.1:c.740C>T XP_006719901.1:p.Ser247Phe
XM_006719839.1:c.740C>T XP_006719902.1:p.Ser247Phe
XM_011535117.1:c.2828C>T XP_011533419.1:p.Ser943Phe
XM_011535117.3:c.2828C>T XP_011533419.1:p.Ser943Phe
XM_011535118.1:c.2789C>T XP_011533420.1:p.Ser930Phe
XM_011535119.1:c.2924C>T XP_011533421.1:p.Ser975Phe
XM_011535120.1:c.2510C>T XP_011533422.1:p.Ser837Phe
XM_011535121.1:c.2730+3587C>T XP_011533423.1:n.2730+3587C>T
XM_011535122.1:c.1592C>T XP_011533424.1:p.Ser531Phe
XM_017020627.1:c.2828C>T XP_016876116.1:p.Ser943Phe
XR_941601.1:n.3143C>T
XR_941602.1:n.3143C>T
XR_941603.1:n.3143C>T
XR_941604.1:n.3143C>T