Canonical Allele Identifier: CA6988445

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934903T>C , CM000675.2:g.51934903T>C	GRCh38
NC_000013.10:g.52509039T>C , CM000675.1:g.52509039T>C	GRCh37
NC_000013.9:g.51407040T>C	NCBI36
NG_008806.1:g.81592A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.4251A>G MANE Select	NP_000044.2:p.Thr1417=
ENST00000242839.10:c.4251A>G MANE Select	ENSP00000242839.5:p.Thr1417=
NM_000053.3:c.4251A>G	NP_000044.2:p.Thr1417=
NM_001005918.2:c.3630A>G	NP_001005918.1:p.Thr1210=
NM_001005918.3:c.3630A>G	NP_001005918.1:p.Thr1210=
NM_001243182.1:c.3918A>G	NP_001230111.1:p.Thr1306=
NM_001243182.2:c.3918A>G	NP_001230111.1:p.Thr1306=
NM_001330578.1:c.4017A>G	NP_001317507.1:p.Thr1339=
NM_001330578.2:c.4017A>G	NP_001317507.1:p.Thr1339=
NM_001330579.1:c.3999A>G	NP_001317508.1:p.Thr1333=
NM_001330579.2:c.3999A>G	NP_001317508.1:p.Thr1333=
ENST00000242839.8:c.4251A>G	ENSP00000242839.4:p.Thr1417=
ENST00000344297.8:c.3630A>G	ENSP00000342559.5:p.Thr1210=
ENST00000344297.9:c.3630A>G	ENSP00000342559.5:p.Thr1210=
ENST00000400366.5:c.3918A>G	ENSP00000383217.3:p.Thr1306=
ENST00000400366.6:c.3918A>G	ENSP00000383217.3:p.Thr1306=
ENST00000400370.8:c.2961A>G	ENSP00000383221.3:p.Thr987=
ENST00000418097.7:c.4056A>G	ENSP00000393343.2:p.Thr1352=
ENST00000448424.6:c.4017A>G	ENSP00000416738.2:p.Thr1339=
ENST00000448424.7:c.3999A>G	ENSP00000416738.3:p.Thr1333=
ENST00000634296.1:c.2029A>G
ENST00000634296.2:c.*1901A>G	ENSP00000489512.2:n.*1901A>G
ENST00000634308.1:c.*1352A>G	ENSP00000489234.1:n.*1352A>G
ENST00000634620.1:n.4995A>G
ENST00000634810.1:n.3596A>G
ENST00000634844.1:c.4107A>G	ENSP00000489398.1:p.Thr1369=
ENST00000673696.1:n.1574A>G
ENST00000673772.1:c.4017A>G	ENSP00000501168.1:p.Thr1339=
ENST00000673864.2:c.*2995A>G	ENSP00000501045.2:n.*2995A>G
ENST00000673867.1:n.4390A>G
ENST00000673923.1:n.1117A>G
ENST00000674147.1:c.3186A>G	ENSP00000500964.1:p.Thr1062=
ENST00000674147.2:c.3630A>G	ENSP00000500964.2:p.Thr1210=
XM_005266423.2:c.4155A>G	XP_005266480.1:p.Thr1385=
XM_005266424.3:c.4155A>G	XP_005266481.1:p.Thr1385=
XM_005266424.4:c.4155A>G	XP_005266481.1:p.Thr1385=
XM_005266427.2:c.4017A>G	XP_005266484.1:p.Thr1339=
XM_005266428.1:c.3999A>G	XP_005266485.1:p.Thr1333=
XM_005266430.3:c.4251A>G	XP_005266487.1:p.Thr1417=
XM_005266430.4:c.4251A>G	XP_005266487.1:p.Thr1417=
XM_005266431.2:c.4215A>G	XP_005266488.1:p.Thr1405=
XM_005266431.4:c.4215A>G	XP_005266488.1:p.Thr1405=
XM_005266432.2:c.3765A>G	XP_005266489.1:p.Thr1255=
XM_006719837.2:c.4155A>G	XP_006719900.1:p.Thr1385=
XM_006719837.3:c.4155A>G	XP_006719900.1:p.Thr1385=
XM_006719838.1:c.2067A>G	XP_006719901.1:p.Thr689=
XM_006719839.1:c.1884A>G	XP_006719902.1:p.Thr628=
XM_011535117.1:c.4155A>G	XP_011533419.1:p.Thr1385=
XM_011535117.3:c.4155A>G	XP_011533419.1:p.Thr1385=
XM_011535118.1:c.4116A>G	XP_011533420.1:p.Thr1372=
XM_011535119.1:c.4068A>G	XP_011533421.1:p.Thr1356=
XM_011535120.1:c.3837A>G	XP_011533422.1:p.Thr1279=
XM_011535121.1:c.3738A>G	XP_011533423.1:p.Thr1246=
XM_011535122.1:c.2919A>G	XP_011533424.1:p.Thr973=
XM_017020627.1:c.4155A>G	XP_016876116.1:p.Thr1385=
XR_941601.1:n.4470A>G
XR_941602.1:n.4470A>G
XR_941603.1:n.4470A>G
XR_941604.1:n.4470A>G