Canonical Allele Identifier: CA483894525

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516682T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942546T>C , CM000675.2:g.51942546T>C	GRCh38
NC_000013.10:g.52516682T>C , CM000675.1:g.52516682T>C	GRCh37
NC_000013.9:g.51414683T>C	NCBI36
NG_008806.1:g.73949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*902A>G	ENSP00000489512.2:n.*902A>G
ENST00000673864.2:c.*1996A>G	ENSP00000501045.2:n.*1996A>G
ENST00000674147.2:c.2631A>G	ENSP00000500964.2:p.Gly877=
ENST00000242839.10:c.3252A>G MANE Select	ENSP00000242839.5:p.Gly1084=
ENST00000344297.9:c.2631A>G	ENSP00000342559.5:p.Gly877=
ENST00000400366.6:c.2919A>G	ENSP00000383217.3:p.Gly973=
ENST00000448424.7:c.3000A>G	ENSP00000416738.3:p.Gly1000=
ENST00000673772.1:c.3018A>G	ENSP00000501168.1:p.Gly1006=
ENST00000673867.1:n.3391A>G
ENST00000674126.1:n.3615A>G
ENST00000674147.1:c.2187A>G	ENSP00000500964.1:p.Gly729=
ENST00000242839.8:c.3252A>G	ENSP00000242839.4:p.Gly1084=
ENST00000344297.8:c.2631A>G	ENSP00000342559.5:p.Gly877=
ENST00000400366.5:c.2919A>G	ENSP00000383217.3:p.Gly973=
ENST00000400370.8:c.1962A>G	ENSP00000383221.3:p.Gly654=
ENST00000418097.7:c.3057A>G	ENSP00000393343.2:p.Gly1019=
ENST00000448424.6:c.3018A>G	ENSP00000416738.2:p.Gly1006=
ENST00000634296.1:c.1030A>G
ENST00000634308.1:c.*353A>G	ENSP00000489234.1:n.*353A>G
ENST00000634620.1:n.3996A>G
ENST00000634810.1:n.2597A>G
ENST00000634844.1:c.3108A>G	ENSP00000489398.1:p.Gly1036=
NM_000053.3:c.3252A>G	NP_000044.2:p.Gly1084=
NM_001005918.2:c.2631A>G	NP_001005918.1:p.Gly877=
NM_001243182.1:c.2919A>G	NP_001230111.1:p.Gly973=
XM_005266423.2:c.3156A>G	XP_005266480.1:p.Gly1052=
XM_005266424.3:c.3156A>G	XP_005266481.1:p.Gly1052=
XM_005266427.2:c.3018A>G	XP_005266484.1:p.Gly1006=
XM_005266428.1:c.3000A>G	XP_005266485.1:p.Gly1000=
XM_005266430.3:c.3252A>G	XP_005266487.1:p.Gly1084=
XM_005266431.2:c.3216A>G	XP_005266488.1:p.Gly1072=
XM_005266432.2:c.2766A>G	XP_005266489.1:p.Gly922=
XM_006719837.2:c.3156A>G	XP_006719900.1:p.Gly1052=
XM_006719838.1:c.1068A>G	XP_006719901.1:p.Gly356=
XM_006719839.1:c.885A>G	XP_006719902.1:p.Gly295=
XM_011535117.1:c.3156A>G	XP_011533419.1:p.Gly1052=
XM_011535118.1:c.3117A>G	XP_011533420.1:p.Gly1039=
XM_011535119.1:c.3069A>G	XP_011533421.1:p.Gly1023=
XM_011535120.1:c.2838A>G	XP_011533422.1:p.Gly946=
XM_011535121.1:c.2739A>G	XP_011533423.1:p.Gly913=
XM_011535122.1:c.1920A>G	XP_011533424.1:p.Gly640=
XR_941601.1:n.3471A>G
XR_941602.1:n.3471A>G
XR_941603.1:n.3471A>G
XR_941604.1:n.3471A>G
NM_001330578.1:c.3018A>G	NP_001317507.1:p.Gly1006=
NM_001330579.1:c.3000A>G	NP_001317508.1:p.Gly1000=
XM_005266424.4:c.3156A>G	XP_005266481.1:p.Gly1052=
XM_005266430.4:c.3252A>G	XP_005266487.1:p.Gly1084=
XM_005266431.4:c.3216A>G	XP_005266488.1:p.Gly1072=
XM_006719837.3:c.3156A>G	XP_006719900.1:p.Gly1052=
XM_011535117.3:c.3156A>G	XP_011533419.1:p.Gly1052=
XM_017020627.1:c.3156A>G	XP_016876116.1:p.Gly1052=
NM_000053.4:c.3252A>G MANE Select	NP_000044.2:p.Gly1084=
NM_001005918.3:c.2631A>G	NP_001005918.1:p.Gly877=
NM_001330579.2:c.3000A>G	NP_001317508.1:p.Gly1000=
NM_001243182.2:c.2919A>G	NP_001230111.1:p.Gly973=
NM_001330578.2:c.3018A>G	NP_001317507.1:p.Gly1006=