Canonical Allele Identifier: CA388033824

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949765C>T , CM000675.2:g.51949765C>T	GRCh38
NC_000013.10:g.52523901C>T , CM000675.1:g.52523901C>T	GRCh37
NC_000013.9:g.51421902C>T	NCBI36
NG_008806.1:g.66730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.2762G>A MANE Select	NP_000044.2:p.Ser921Asn
ENST00000242839.10:c.2762G>A MANE Select	ENSP00000242839.5:p.Ser921Asn
NM_000053.3:c.2762G>A	NP_000044.2:p.Ser921Asn
NM_001005918.2:c.2244+242G>A	NP_001005918.1:n.2244+242G>A
NM_001005918.3:c.2244+242G>A	NP_001005918.1:n.2244+242G>A
NM_001243182.1:c.2429G>A	NP_001230111.1:p.Ser810Asn
NM_001243182.2:c.2429G>A	NP_001230111.1:p.Ser810Asn
NM_001330578.1:c.2528G>A	NP_001317507.1:p.Ser843Asn
NM_001330578.2:c.2528G>A	NP_001317507.1:p.Ser843Asn
NM_001330579.1:c.2510G>A	NP_001317508.1:p.Ser837Asn
NM_001330579.2:c.2510G>A	NP_001317508.1:p.Ser837Asn
ENST00000242839.8:c.2762G>A	ENSP00000242839.4:p.Ser921Asn
ENST00000344297.8:c.2244+242G>A	ENSP00000342559.5:n.2244+242G>A
ENST00000344297.9:c.2244+242G>A	ENSP00000342559.5:n.2244+242G>A
ENST00000400366.5:c.2429G>A	ENSP00000383217.3:p.Ser810Asn
ENST00000400366.6:c.2429G>A	ENSP00000383217.3:p.Ser810Asn
ENST00000400370.8:c.1472G>A	ENSP00000383221.3:p.Ser491Asn
ENST00000418097.7:c.2762G>A	ENSP00000393343.2:p.Ser921Asn
ENST00000448424.6:c.2528G>A	ENSP00000416738.2:p.Ser843Asn
ENST00000448424.7:c.2510G>A	ENSP00000416738.3:p.Ser837Asn
ENST00000634296.1:c.723G>A
ENST00000634296.2:c.*595G>A	ENSP00000489512.2:n.*595G>A
ENST00000634308.1:c.2528G>A	ENSP00000489234.1:p.Ser843Asn
ENST00000634620.1:n.3560G>A
ENST00000634810.1:n.2107G>A
ENST00000634844.1:c.2618G>A	ENSP00000489398.1:p.Ser873Asn
ENST00000635406.1:n.212-3287G>A
ENST00000673772.1:c.2528G>A	ENSP00000501168.1:p.Ser843Asn
ENST00000673864.2:c.*1506G>A	ENSP00000501045.2:n.*1506G>A
ENST00000674147.1:c.1800+242G>A	ENSP00000500964.1:n.1800+242G>A
ENST00000674147.2:c.2244+242G>A	ENSP00000500964.2:n.2244+242G>A
XM_005266423.2:c.2666G>A	XP_005266480.1:p.Ser889Asn
XM_005266424.3:c.2666G>A	XP_005266481.1:p.Ser889Asn
XM_005266424.4:c.2666G>A	XP_005266481.1:p.Ser889Asn
XM_005266427.2:c.2528G>A	XP_005266484.1:p.Ser843Asn
XM_005266428.1:c.2510G>A	XP_005266485.1:p.Ser837Asn
XM_005266430.3:c.2762G>A	XP_005266487.1:p.Ser921Asn
XM_005266430.4:c.2762G>A	XP_005266487.1:p.Ser921Asn
XM_005266431.2:c.2726G>A	XP_005266488.1:p.Ser909Asn
XM_005266431.4:c.2726G>A	XP_005266488.1:p.Ser909Asn
XM_005266432.2:c.2276G>A	XP_005266489.1:p.Ser759Asn
XM_006719837.2:c.2666G>A	XP_006719900.1:p.Ser889Asn
XM_006719837.3:c.2666G>A	XP_006719900.1:p.Ser889Asn
XM_006719838.1:c.578G>A	XP_006719901.1:p.Ser193Asn
XM_006719839.1:c.578G>A	XP_006719902.1:p.Ser193Asn
XM_011535117.1:c.2666G>A	XP_011533419.1:p.Ser889Asn
XM_011535117.3:c.2666G>A	XP_011533419.1:p.Ser889Asn
XM_011535118.1:c.2730+242G>A	XP_011533420.1:n.2730+242G>A
XM_011535119.1:c.2762G>A	XP_011533421.1:p.Ser921Asn
XM_011535120.1:c.2348G>A	XP_011533422.1:p.Ser783Asn
XM_011535121.1:c.2730+242G>A	XP_011533423.1:n.2730+242G>A
XM_011535122.1:c.1430G>A	XP_011533424.1:p.Ser477Asn
XM_017020627.1:c.2666G>A	XP_016876116.1:p.Ser889Asn
XR_941601.1:n.2981G>A
XR_941602.1:n.2981G>A
XR_941603.1:n.2981G>A
XR_941604.1:n.2981G>A