Canonical Allele Identifier: CA388020815

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511427T>C (hg19) ; chr13:g.51937291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937291T>C , CM000675.2:g.51937291T>C	GRCh38
NC_000013.10:g.52511427T>C , CM000675.1:g.52511427T>C	GRCh37
NC_000013.9:g.51409428T>C	NCBI36
NG_008806.1:g.79204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1656A>G	ENSP00000489512.2:n.*1656A>G
ENST00000673864.2:c.*2750A>G	ENSP00000501045.2:n.*2750A>G
ENST00000674147.2:c.3385A>G	ENSP00000500964.2:p.Ile1129Val
ENST00000242839.10:c.4006A>G MANE Select	ENSP00000242839.5:p.Ile1336Val
ENST00000344297.9:c.3385A>G	ENSP00000342559.5:p.Ile1129Val
ENST00000400366.6:c.3673A>G	ENSP00000383217.3:p.Ile1225Val
ENST00000448424.7:c.3754A>G	ENSP00000416738.3:p.Ile1252Val
ENST00000673696.1:n.1329A>G
ENST00000673772.1:c.3772A>G	ENSP00000501168.1:p.Ile1258Val
ENST00000673867.1:n.4145A>G
ENST00000673923.1:n.872A>G
ENST00000674147.1:c.2941A>G	ENSP00000500964.1:p.Ile981Val
ENST00000242839.8:c.4006A>G	ENSP00000242839.4:p.Ile1336Val
ENST00000344297.8:c.3385A>G	ENSP00000342559.5:p.Ile1129Val
ENST00000400366.5:c.3673A>G	ENSP00000383217.3:p.Ile1225Val
ENST00000400370.8:c.2716A>G	ENSP00000383221.3:p.Ile906Val
ENST00000418097.7:c.3811A>G	ENSP00000393343.2:p.Ile1271Val
ENST00000448424.6:c.3772A>G	ENSP00000416738.2:p.Ile1258Val
ENST00000634296.1:c.1784A>G
ENST00000634308.1:c.*1107A>G	ENSP00000489234.1:n.*1107A>G
ENST00000634620.1:n.4750A>G
ENST00000634810.1:n.3351A>G
ENST00000634844.1:c.3862A>G	ENSP00000489398.1:p.Ile1288Val
NM_000053.3:c.4006A>G	NP_000044.2:p.Ile1336Val
NM_001005918.2:c.3385A>G	NP_001005918.1:p.Ile1129Val
NM_001243182.1:c.3673A>G	NP_001230111.1:p.Ile1225Val
XM_005266423.2:c.3910A>G	XP_005266480.1:p.Ile1304Val
XM_005266424.3:c.3910A>G	XP_005266481.1:p.Ile1304Val
XM_005266427.2:c.3772A>G	XP_005266484.1:p.Ile1258Val
XM_005266428.1:c.3754A>G	XP_005266485.1:p.Ile1252Val
XM_005266430.3:c.4006A>G	XP_005266487.1:p.Ile1336Val
XM_005266431.2:c.3970A>G	XP_005266488.1:p.Ile1324Val
XM_005266432.2:c.3520A>G	XP_005266489.1:p.Ile1174Val
XM_006719837.2:c.3910A>G	XP_006719900.1:p.Ile1304Val
XM_006719838.1:c.1822A>G	XP_006719901.1:p.Ile608Val
XM_006719839.1:c.1639A>G	XP_006719902.1:p.Ile547Val
XM_011535117.1:c.3910A>G	XP_011533419.1:p.Ile1304Val
XM_011535118.1:c.3871A>G	XP_011533420.1:p.Ile1291Val
XM_011535119.1:c.3823A>G	XP_011533421.1:p.Ile1275Val
XM_011535120.1:c.3592A>G	XP_011533422.1:p.Ile1198Val
XM_011535121.1:c.3493A>G	XP_011533423.1:p.Ile1165Val
XM_011535122.1:c.2674A>G	XP_011533424.1:p.Ile892Val
XR_941601.1:n.4225A>G
XR_941602.1:n.4225A>G
XR_941603.1:n.4225A>G
XR_941604.1:n.4225A>G
NM_001330578.1:c.3772A>G	NP_001317507.1:p.Ile1258Val
NM_001330579.1:c.3754A>G	NP_001317508.1:p.Ile1252Val
XM_005266424.4:c.3910A>G	XP_005266481.1:p.Ile1304Val
XM_005266430.4:c.4006A>G	XP_005266487.1:p.Ile1336Val
XM_005266431.4:c.3970A>G	XP_005266488.1:p.Ile1324Val
XM_006719837.3:c.3910A>G	XP_006719900.1:p.Ile1304Val
XM_011535117.3:c.3910A>G	XP_011533419.1:p.Ile1304Val
XM_017020627.1:c.3910A>G	XP_016876116.1:p.Ile1304Val
NM_000053.4:c.4006A>G MANE Select	NP_000044.2:p.Ile1336Val
NM_001005918.3:c.3385A>G	NP_001005918.1:p.Ile1129Val
NM_001330579.2:c.3754A>G	NP_001317508.1:p.Ile1252Val
NM_001243182.2:c.3673A>G	NP_001230111.1:p.Ile1225Val
NM_001330578.2:c.3772A>G	NP_001317507.1:p.Ile1258Val