Canonical Allele Identifier: CA388029918

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944151A>T , CM000675.2:g.51944151A>T	GRCh38
NC_000013.10:g.52518287A>T , CM000675.1:g.52518287A>T	GRCh37
NC_000013.9:g.51416288A>T	NCBI36
NG_008806.1:g.72344T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3201T>A MANE Select	NP_000044.2:p.Ser1067Arg
ENST00000242839.10:c.3201T>A MANE Select	ENSP00000242839.5:p.Ser1067Arg
NM_000053.3:c.3201T>A	NP_000044.2:p.Ser1067Arg
NM_001005918.2:c.2580T>A	NP_001005918.1:p.Ser860Arg
NM_001005918.3:c.2580T>A	NP_001005918.1:p.Ser860Arg
NM_001243182.1:c.2868T>A	NP_001230111.1:p.Ser956Arg
NM_001243182.2:c.2868T>A	NP_001230111.1:p.Ser956Arg
NM_001330578.1:c.2967T>A	NP_001317507.1:p.Ser989Arg
NM_001330578.2:c.2967T>A	NP_001317507.1:p.Ser989Arg
NM_001330579.1:c.2949T>A	NP_001317508.1:p.Ser983Arg
NM_001330579.2:c.2949T>A	NP_001317508.1:p.Ser983Arg
ENST00000242839.8:c.3201T>A	ENSP00000242839.4:p.Ser1067Arg
ENST00000344297.8:c.2580T>A	ENSP00000342559.5:p.Ser860Arg
ENST00000344297.9:c.2580T>A	ENSP00000342559.5:p.Ser860Arg
ENST00000400366.5:c.2868T>A	ENSP00000383217.3:p.Ser956Arg
ENST00000400366.6:c.2868T>A	ENSP00000383217.3:p.Ser956Arg
ENST00000400370.8:c.1911T>A	ENSP00000383221.3:p.Ser637Arg
ENST00000418097.7:c.3006T>A	ENSP00000393343.2:p.Ser1002Arg
ENST00000448424.6:c.2967T>A	ENSP00000416738.2:p.Ser989Arg
ENST00000448424.7:c.2949T>A	ENSP00000416738.3:p.Ser983Arg
ENST00000466629.1:n.421T>A
ENST00000634296.1:c.1022-1597T>A
ENST00000634296.2:c.*894-1597T>A	ENSP00000489512.2:n.*894-1597T>A
ENST00000634308.1:c.*302T>A	ENSP00000489234.1:n.*302T>A
ENST00000634620.1:n.3945T>A
ENST00000634810.1:n.2546T>A
ENST00000634844.1:c.3057T>A	ENSP00000489398.1:p.Ser1019Arg
ENST00000673772.1:c.2967T>A	ENSP00000501168.1:p.Ser989Arg
ENST00000673864.2:c.*1945T>A	ENSP00000501045.2:n.*1945T>A
ENST00000673867.1:n.3340T>A
ENST00000674126.1:n.3564T>A
ENST00000674147.1:c.2136T>A	ENSP00000500964.1:p.Ser712Arg
ENST00000674147.2:c.2580T>A	ENSP00000500964.2:p.Ser860Arg
XM_005266423.2:c.3105T>A	XP_005266480.1:p.Ser1035Arg
XM_005266424.3:c.3105T>A	XP_005266481.1:p.Ser1035Arg
XM_005266424.4:c.3105T>A	XP_005266481.1:p.Ser1035Arg
XM_005266427.2:c.2967T>A	XP_005266484.1:p.Ser989Arg
XM_005266428.1:c.2949T>A	XP_005266485.1:p.Ser983Arg
XM_005266430.3:c.3201T>A	XP_005266487.1:p.Ser1067Arg
XM_005266430.4:c.3201T>A	XP_005266487.1:p.Ser1067Arg
XM_005266431.2:c.3165T>A	XP_005266488.1:p.Ser1055Arg
XM_005266431.4:c.3165T>A	XP_005266488.1:p.Ser1055Arg
XM_005266432.2:c.2715T>A	XP_005266489.1:p.Ser905Arg
XM_006719837.2:c.3105T>A	XP_006719900.1:p.Ser1035Arg
XM_006719837.3:c.3105T>A	XP_006719900.1:p.Ser1035Arg
XM_006719838.1:c.1017T>A	XP_006719901.1:p.Ser339Arg
XM_006719839.1:c.877-1597T>A	XP_006719902.1:n.877-1597T>A
XM_011535117.1:c.3105T>A	XP_011533419.1:p.Ser1035Arg
XM_011535117.3:c.3105T>A	XP_011533419.1:p.Ser1035Arg
XM_011535118.1:c.3066T>A	XP_011533420.1:p.Ser1022Arg
XM_011535119.1:c.3061-1597T>A	XP_011533421.1:n.3061-1597T>A
XM_011535120.1:c.2787T>A	XP_011533422.1:p.Ser929Arg
XM_011535121.1:c.2731-1597T>A	XP_011533423.1:n.2731-1597T>A
XM_011535122.1:c.1869T>A	XP_011533424.1:p.Ser623Arg
XM_017020627.1:c.3105T>A	XP_016876116.1:p.Ser1035Arg
XR_941601.1:n.3420T>A
XR_941602.1:n.3420T>A
XR_941603.1:n.3420T>A
XR_941604.1:n.3420T>A