Canonical Allele Identifier: CA483894770

Gene: ATP7B

Linked Data

• dbSNP Id: rs187343742
• MyVariant Identifiers: chr13:g.52518419A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944283A>T , CM000675.2:g.51944283A>T	GRCh38
NC_000013.10:g.52518419A>T , CM000675.1:g.52518419A>T	GRCh37
NC_000013.9:g.51416420A>T	NCBI36
NG_008806.1:g.72212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1729T>A	ENSP00000489512.2:n.*894-1729T>A
ENST00000673864.2:c.*1813T>A	ENSP00000501045.2:n.*1813T>A
ENST00000674147.2:c.2448T>A	ENSP00000500964.2:p.Thr816=
ENST00000242839.10:c.3069T>A MANE Select	ENSP00000242839.5:p.Thr1023=
ENST00000344297.9:c.2448T>A	ENSP00000342559.5:p.Thr816=
ENST00000400366.6:c.2736T>A	ENSP00000383217.3:p.Thr912=
ENST00000448424.7:c.2817T>A	ENSP00000416738.3:p.Thr939=
ENST00000673772.1:c.2835T>A	ENSP00000501168.1:p.Thr945=
ENST00000673867.1:n.3208T>A
ENST00000674126.1:n.3432T>A
ENST00000674147.1:c.2004T>A	ENSP00000500964.1:p.Thr668=
ENST00000242839.8:c.3069T>A	ENSP00000242839.4:p.Thr1023=
ENST00000344297.8:c.2448T>A	ENSP00000342559.5:p.Thr816=
ENST00000400366.5:c.2736T>A	ENSP00000383217.3:p.Thr912=
ENST00000400370.8:c.1779T>A	ENSP00000383221.3:p.Thr593=
ENST00000418097.7:c.2874T>A	ENSP00000393343.2:p.Thr958=
ENST00000448424.6:c.2835T>A	ENSP00000416738.2:p.Thr945=
ENST00000466629.1:n.289T>A
ENST00000634296.1:c.1022-1729T>A
ENST00000634308.1:c.*170T>A	ENSP00000489234.1:n.*170T>A
ENST00000634620.1:n.3813T>A
ENST00000634810.1:n.2414T>A
ENST00000634844.1:c.2925T>A	ENSP00000489398.1:p.Thr975=
ENST00000635406.1:n.415T>A
NM_000053.3:c.3069T>A	NP_000044.2:p.Thr1023=
NM_001005918.2:c.2448T>A	NP_001005918.1:p.Thr816=
NM_001243182.1:c.2736T>A	NP_001230111.1:p.Thr912=
XM_005266423.2:c.2973T>A	XP_005266480.1:p.Thr991=
XM_005266424.3:c.2973T>A	XP_005266481.1:p.Thr991=
XM_005266427.2:c.2835T>A	XP_005266484.1:p.Thr945=
XM_005266428.1:c.2817T>A	XP_005266485.1:p.Thr939=
XM_005266430.3:c.3069T>A	XP_005266487.1:p.Thr1023=
XM_005266431.2:c.3033T>A	XP_005266488.1:p.Thr1011=
XM_005266432.2:c.2583T>A	XP_005266489.1:p.Thr861=
XM_006719837.2:c.2973T>A	XP_006719900.1:p.Thr991=
XM_006719838.1:c.885T>A	XP_006719901.1:p.Thr295=
XM_006719839.1:c.877-1729T>A	XP_006719902.1:n.877-1729T>A
XM_011535117.1:c.2973T>A	XP_011533419.1:p.Thr991=
XM_011535118.1:c.2934T>A	XP_011533420.1:p.Thr978=
XM_011535119.1:c.3061-1729T>A	XP_011533421.1:n.3061-1729T>A
XM_011535120.1:c.2655T>A	XP_011533422.1:p.Thr885=
XM_011535121.1:c.2731-1729T>A	XP_011533423.1:n.2731-1729T>A
XM_011535122.1:c.1737T>A	XP_011533424.1:p.Thr579=
XR_941601.1:n.3288T>A
XR_941602.1:n.3288T>A
XR_941603.1:n.3288T>A
XR_941604.1:n.3288T>A
NM_001330578.1:c.2835T>A	NP_001317507.1:p.Thr945=
NM_001330579.1:c.2817T>A	NP_001317508.1:p.Thr939=
XM_005266424.4:c.2973T>A	XP_005266481.1:p.Thr991=
XM_005266430.4:c.3069T>A	XP_005266487.1:p.Thr1023=
XM_005266431.4:c.3033T>A	XP_005266488.1:p.Thr1011=
XM_006719837.3:c.2973T>A	XP_006719900.1:p.Thr991=
XM_011535117.3:c.2973T>A	XP_011533419.1:p.Thr991=
XM_017020627.1:c.2973T>A	XP_016876116.1:p.Thr991=
NM_000053.4:c.3069T>A MANE Select	NP_000044.2:p.Thr1023=
NM_001005918.3:c.2448T>A	NP_001005918.1:p.Thr816=
NM_001330579.2:c.2817T>A	NP_001317508.1:p.Thr939=
NM_001243182.2:c.2736T>A	NP_001230111.1:p.Thr912=
NM_001330578.2:c.2835T>A	NP_001317507.1:p.Thr945=