Canonical Allele Identifier: CA388029924

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944152C>T , CM000675.2:g.51944152C>T	GRCh38
NC_000013.10:g.52518288C>T , CM000675.1:g.52518288C>T	GRCh37
NC_000013.9:g.51416289C>T	NCBI36
NG_008806.1:g.72343G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3200G>A MANE Select	NP_000044.2:p.Ser1067Asn
ENST00000242839.10:c.3200G>A MANE Select	ENSP00000242839.5:p.Ser1067Asn
NM_000053.3:c.3200G>A	NP_000044.2:p.Ser1067Asn
NM_001005918.2:c.2579G>A	NP_001005918.1:p.Ser860Asn
NM_001005918.3:c.2579G>A	NP_001005918.1:p.Ser860Asn
NM_001243182.1:c.2867G>A	NP_001230111.1:p.Ser956Asn
NM_001243182.2:c.2867G>A	NP_001230111.1:p.Ser956Asn
NM_001330578.1:c.2966G>A	NP_001317507.1:p.Ser989Asn
NM_001330578.2:c.2966G>A	NP_001317507.1:p.Ser989Asn
NM_001330579.1:c.2948G>A	NP_001317508.1:p.Ser983Asn
NM_001330579.2:c.2948G>A	NP_001317508.1:p.Ser983Asn
ENST00000242839.8:c.3200G>A	ENSP00000242839.4:p.Ser1067Asn
ENST00000344297.8:c.2579G>A	ENSP00000342559.5:p.Ser860Asn
ENST00000344297.9:c.2579G>A	ENSP00000342559.5:p.Ser860Asn
ENST00000400366.5:c.2867G>A	ENSP00000383217.3:p.Ser956Asn
ENST00000400366.6:c.2867G>A	ENSP00000383217.3:p.Ser956Asn
ENST00000400370.8:c.1910G>A	ENSP00000383221.3:p.Ser637Asn
ENST00000418097.7:c.3005G>A	ENSP00000393343.2:p.Ser1002Asn
ENST00000448424.6:c.2966G>A	ENSP00000416738.2:p.Ser989Asn
ENST00000448424.7:c.2948G>A	ENSP00000416738.3:p.Ser983Asn
ENST00000466629.1:n.420G>A
ENST00000634296.1:c.1022-1598G>A
ENST00000634296.2:c.*894-1598G>A	ENSP00000489512.2:n.*894-1598G>A
ENST00000634308.1:c.*301G>A	ENSP00000489234.1:n.*301G>A
ENST00000634620.1:n.3944G>A
ENST00000634810.1:n.2545G>A
ENST00000634844.1:c.3056G>A	ENSP00000489398.1:p.Ser1019Asn
ENST00000673772.1:c.2966G>A	ENSP00000501168.1:p.Ser989Asn
ENST00000673864.2:c.*1944G>A	ENSP00000501045.2:n.*1944G>A
ENST00000673867.1:n.3339G>A
ENST00000674126.1:n.3563G>A
ENST00000674147.1:c.2135G>A	ENSP00000500964.1:p.Ser712Asn
ENST00000674147.2:c.2579G>A	ENSP00000500964.2:p.Ser860Asn
XM_005266423.2:c.3104G>A	XP_005266480.1:p.Ser1035Asn
XM_005266424.3:c.3104G>A	XP_005266481.1:p.Ser1035Asn
XM_005266424.4:c.3104G>A	XP_005266481.1:p.Ser1035Asn
XM_005266427.2:c.2966G>A	XP_005266484.1:p.Ser989Asn
XM_005266428.1:c.2948G>A	XP_005266485.1:p.Ser983Asn
XM_005266430.3:c.3200G>A	XP_005266487.1:p.Ser1067Asn
XM_005266430.4:c.3200G>A	XP_005266487.1:p.Ser1067Asn
XM_005266431.2:c.3164G>A	XP_005266488.1:p.Ser1055Asn
XM_005266431.4:c.3164G>A	XP_005266488.1:p.Ser1055Asn
XM_005266432.2:c.2714G>A	XP_005266489.1:p.Ser905Asn
XM_006719837.2:c.3104G>A	XP_006719900.1:p.Ser1035Asn
XM_006719837.3:c.3104G>A	XP_006719900.1:p.Ser1035Asn
XM_006719838.1:c.1016G>A	XP_006719901.1:p.Ser339Asn
XM_006719839.1:c.877-1598G>A	XP_006719902.1:n.877-1598G>A
XM_011535117.1:c.3104G>A	XP_011533419.1:p.Ser1035Asn
XM_011535117.3:c.3104G>A	XP_011533419.1:p.Ser1035Asn
XM_011535118.1:c.3065G>A	XP_011533420.1:p.Ser1022Asn
XM_011535119.1:c.3061-1598G>A	XP_011533421.1:n.3061-1598G>A
XM_011535120.1:c.2786G>A	XP_011533422.1:p.Ser929Asn
XM_011535121.1:c.2731-1598G>A	XP_011533423.1:n.2731-1598G>A
XM_011535122.1:c.1868G>A	XP_011533424.1:p.Ser623Asn
XM_017020627.1:c.3104G>A	XP_016876116.1:p.Ser1035Asn
XR_941601.1:n.3419G>A
XR_941602.1:n.3419G>A
XR_941603.1:n.3419G>A
XR_941604.1:n.3419G>A