Canonical Allele Identifier: CA388032076

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946345-C-T
• MyVariant Identifiers: chr13:g.52520481C>T (hg19) ; chr13:g.51946345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946345C>T , CM000675.2:g.51946345C>T	GRCh38
NC_000013.10:g.52520481C>T , CM000675.1:g.52520481C>T	GRCh37
NC_000013.9:g.51418482C>T	NCBI36
NG_008806.1:g.70150G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*832G>A	ENSP00000489512.2:n.*832G>A
ENST00000673864.2:c.*1743G>A	ENSP00000501045.2:n.*1743G>A
ENST00000674147.2:c.2378G>A	ENSP00000500964.2:p.Gly793Glu
ENST00000242839.10:c.2999G>A MANE Select	ENSP00000242839.5:p.Gly1000Glu
ENST00000344297.9:c.2378G>A	ENSP00000342559.5:p.Gly793Glu
ENST00000400366.6:c.2666G>A	ENSP00000383217.3:p.Gly889Glu
ENST00000448424.7:c.2747G>A	ENSP00000416738.3:p.Gly916Glu
ENST00000673772.1:c.2765G>A	ENSP00000501168.1:p.Gly922Glu
ENST00000673867.1:n.1146G>A
ENST00000674126.1:n.3362G>A
ENST00000674147.1:c.1934G>A	ENSP00000500964.1:p.Gly645Glu
ENST00000242839.8:c.2999G>A	ENSP00000242839.4:p.Gly1000Glu
ENST00000344297.8:c.2378G>A	ENSP00000342559.5:p.Gly793Glu
ENST00000400366.5:c.2666G>A	ENSP00000383217.3:p.Gly889Glu
ENST00000400370.8:c.1709G>A	ENSP00000383221.3:p.Gly570Glu
ENST00000418097.7:c.2866-2054G>A	ENSP00000393343.2:n.2866-2054G>A
ENST00000448424.6:c.2765G>A	ENSP00000416738.2:p.Gly922Glu
ENST00000466629.1:n.219G>A
ENST00000634296.1:c.960G>A
ENST00000634308.1:c.*100G>A	ENSP00000489234.1:n.*100G>A
ENST00000634620.1:n.3743G>A
ENST00000634810.1:n.2344G>A
ENST00000634844.1:c.2855G>A	ENSP00000489398.1:p.Gly952Glu
ENST00000635406.1:n.345G>A
NM_000053.3:c.2999G>A	NP_000044.2:p.Gly1000Glu
NM_001005918.2:c.2378G>A	NP_001005918.1:p.Gly793Glu
NM_001243182.1:c.2666G>A	NP_001230111.1:p.Gly889Glu
XM_005266423.2:c.2903G>A	XP_005266480.1:p.Gly968Glu
XM_005266424.3:c.2903G>A	XP_005266481.1:p.Gly968Glu
XM_005266427.2:c.2765G>A	XP_005266484.1:p.Gly922Glu
XM_005266428.1:c.2747G>A	XP_005266485.1:p.Gly916Glu
XM_005266430.3:c.2999G>A	XP_005266487.1:p.Gly1000Glu
XM_005266431.2:c.2963G>A	XP_005266488.1:p.Gly988Glu
XM_005266432.2:c.2513G>A	XP_005266489.1:p.Gly838Glu
XM_006719837.2:c.2903G>A	XP_006719900.1:p.Gly968Glu
XM_006719838.1:c.815G>A	XP_006719901.1:p.Gly272Glu
XM_006719839.1:c.815G>A	XP_006719902.1:p.Gly272Glu
XM_011535117.1:c.2903G>A	XP_011533419.1:p.Gly968Glu
XM_011535118.1:c.2864G>A	XP_011533420.1:p.Gly955Glu
XM_011535119.1:c.2999G>A	XP_011533421.1:p.Gly1000Glu
XM_011535120.1:c.2585G>A	XP_011533422.1:p.Gly862Glu
XM_011535121.1:c.2730+3662G>A	XP_011533423.1:n.2730+3662G>A
XM_011535122.1:c.1667G>A	XP_011533424.1:p.Gly556Glu
XR_941601.1:n.3218G>A
XR_941602.1:n.3218G>A
XR_941603.1:n.3218G>A
XR_941604.1:n.3218G>A
NM_001330578.1:c.2765G>A	NP_001317507.1:p.Gly922Glu
NM_001330579.1:c.2747G>A	NP_001317508.1:p.Gly916Glu
XM_005266424.4:c.2903G>A	XP_005266481.1:p.Gly968Glu
XM_005266430.4:c.2999G>A	XP_005266487.1:p.Gly1000Glu
XM_005266431.4:c.2963G>A	XP_005266488.1:p.Gly988Glu
XM_006719837.3:c.2903G>A	XP_006719900.1:p.Gly968Glu
XM_011535117.3:c.2903G>A	XP_011533419.1:p.Gly968Glu
XM_017020627.1:c.2903G>A	XP_016876116.1:p.Gly968Glu
NM_000053.4:c.2999G>A MANE Select	NP_000044.2:p.Gly1000Glu
NM_001005918.3:c.2378G>A	NP_001005918.1:p.Gly793Glu
NM_001330579.2:c.2747G>A	NP_001317508.1:p.Gly916Glu
NM_001243182.2:c.2666G>A	NP_001230111.1:p.Gly889Glu
NM_001330578.2:c.2765G>A	NP_001317507.1:p.Gly922Glu