Canonical Allele Identifier: CA388032263

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520518C>T (hg19) ; chr13:g.51946382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946382C>T , CM000675.2:g.51946382C>T	GRCh38
NC_000013.10:g.52520518C>T , CM000675.1:g.52520518C>T	GRCh37
NC_000013.9:g.51418519C>T	NCBI36
NG_008806.1:g.70113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*795G>A	ENSP00000489512.2:n.*795G>A
ENST00000673864.2:c.*1706G>A	ENSP00000501045.2:n.*1706G>A
ENST00000674147.2:c.2341G>A	ENSP00000500964.2:p.Gly781Arg
ENST00000242839.10:c.2962G>A MANE Select	ENSP00000242839.5:p.Gly988Arg
ENST00000344297.9:c.2341G>A	ENSP00000342559.5:p.Gly781Arg
ENST00000400366.6:c.2629G>A	ENSP00000383217.3:p.Gly877Arg
ENST00000448424.7:c.2710G>A	ENSP00000416738.3:p.Gly904Arg
ENST00000673772.1:c.2728G>A	ENSP00000501168.1:p.Gly910Arg
ENST00000673867.1:n.1109G>A
ENST00000674126.1:n.3325G>A
ENST00000674147.1:c.1897G>A	ENSP00000500964.1:p.Gly633Arg
ENST00000242839.8:c.2962G>A	ENSP00000242839.4:p.Gly988Arg
ENST00000344297.8:c.2341G>A	ENSP00000342559.5:p.Gly781Arg
ENST00000400366.5:c.2629G>A	ENSP00000383217.3:p.Gly877Arg
ENST00000400370.8:c.1672G>A	ENSP00000383221.3:p.Gly558Arg
ENST00000418097.7:c.2866-2091G>A	ENSP00000393343.2:n.2866-2091G>A
ENST00000448424.6:c.2728G>A	ENSP00000416738.2:p.Gly910Arg
ENST00000466629.1:n.182G>A
ENST00000634296.1:c.923G>A
ENST00000634308.1:c.*63G>A	ENSP00000489234.1:n.*63G>A
ENST00000634620.1:n.3706G>A
ENST00000634810.1:n.2307G>A
ENST00000634844.1:c.2818G>A	ENSP00000489398.1:p.Gly940Arg
ENST00000635406.1:n.308G>A
NM_000053.3:c.2962G>A	NP_000044.2:p.Gly988Arg
NM_001005918.2:c.2341G>A	NP_001005918.1:p.Gly781Arg
NM_001243182.1:c.2629G>A	NP_001230111.1:p.Gly877Arg
XM_005266423.2:c.2866G>A	XP_005266480.1:p.Gly956Arg
XM_005266424.3:c.2866G>A	XP_005266481.1:p.Gly956Arg
XM_005266427.2:c.2728G>A	XP_005266484.1:p.Gly910Arg
XM_005266428.1:c.2710G>A	XP_005266485.1:p.Gly904Arg
XM_005266430.3:c.2962G>A	XP_005266487.1:p.Gly988Arg
XM_005266431.2:c.2926G>A	XP_005266488.1:p.Gly976Arg
XM_005266432.2:c.2476G>A	XP_005266489.1:p.Gly826Arg
XM_006719837.2:c.2866G>A	XP_006719900.1:p.Gly956Arg
XM_006719838.1:c.778G>A	XP_006719901.1:p.Gly260Arg
XM_006719839.1:c.778G>A	XP_006719902.1:p.Gly260Arg
XM_011535117.1:c.2866G>A	XP_011533419.1:p.Gly956Arg
XM_011535118.1:c.2827G>A	XP_011533420.1:p.Gly943Arg
XM_011535119.1:c.2962G>A	XP_011533421.1:p.Gly988Arg
XM_011535120.1:c.2548G>A	XP_011533422.1:p.Gly850Arg
XM_011535121.1:c.2730+3625G>A	XP_011533423.1:n.2730+3625G>A
XM_011535122.1:c.1630G>A	XP_011533424.1:p.Gly544Arg
XR_941601.1:n.3181G>A
XR_941602.1:n.3181G>A
XR_941603.1:n.3181G>A
XR_941604.1:n.3181G>A
NM_001330578.1:c.2728G>A	NP_001317507.1:p.Gly910Arg
NM_001330579.1:c.2710G>A	NP_001317508.1:p.Gly904Arg
XM_005266424.4:c.2866G>A	XP_005266481.1:p.Gly956Arg
XM_005266430.4:c.2962G>A	XP_005266487.1:p.Gly988Arg
XM_005266431.4:c.2926G>A	XP_005266488.1:p.Gly976Arg
XM_006719837.3:c.2866G>A	XP_006719900.1:p.Gly956Arg
XM_011535117.3:c.2866G>A	XP_011533419.1:p.Gly956Arg
XM_017020627.1:c.2866G>A	XP_016876116.1:p.Gly956Arg
NM_000053.4:c.2962G>A MANE Select	NP_000044.2:p.Gly988Arg
NM_001005918.3:c.2341G>A	NP_001005918.1:p.Gly781Arg
NM_001330579.2:c.2710G>A	NP_001317508.1:p.Gly904Arg
NM_001243182.2:c.2629G>A	NP_001230111.1:p.Gly877Arg
NM_001330578.2:c.2728G>A	NP_001317507.1:p.Gly910Arg