Canonical Allele Identifier: CA388032072

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2107627
• ClinVar RCV Id: RCV003045696
• dbSNP Id: rs1957653671
• gnomAD v4: 13-51946345-C-A
• MyVariant Identifiers: chr13:g.52520481C>A (hg19) ; chr13:g.51946345C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*832G>T	ENSP00000489512.2:n.*832G>T
ENST00000673864.2:c.*1743G>T	ENSP00000501045.2:n.*1743G>T
ENST00000674147.2:c.2378G>T	ENSP00000500964.2:p.Gly793Val
ENST00000242839.10:c.2999G>T MANE Select	ENSP00000242839.5:p.Gly1000Val
ENST00000344297.9:c.2378G>T	ENSP00000342559.5:p.Gly793Val
ENST00000400366.6:c.2666G>T	ENSP00000383217.3:p.Gly889Val
ENST00000448424.7:c.2747G>T	ENSP00000416738.3:p.Gly916Val
ENST00000673772.1:c.2765G>T	ENSP00000501168.1:p.Gly922Val
ENST00000673867.1:n.1146G>T
ENST00000674126.1:n.3362G>T
ENST00000674147.1:c.1934G>T	ENSP00000500964.1:p.Gly645Val
ENST00000242839.8:c.2999G>T	ENSP00000242839.4:p.Gly1000Val
ENST00000344297.8:c.2378G>T	ENSP00000342559.5:p.Gly793Val
ENST00000400366.5:c.2666G>T	ENSP00000383217.3:p.Gly889Val
ENST00000400370.8:c.1709G>T	ENSP00000383221.3:p.Gly570Val
ENST00000418097.7:c.2866-2054G>T	ENSP00000393343.2:n.2866-2054G>T
ENST00000448424.6:c.2765G>T	ENSP00000416738.2:p.Gly922Val
ENST00000466629.1:n.219G>T
ENST00000634296.1:c.960G>T
ENST00000634308.1:c.*100G>T	ENSP00000489234.1:n.*100G>T
ENST00000634620.1:n.3743G>T
ENST00000634810.1:n.2344G>T
ENST00000634844.1:c.2855G>T	ENSP00000489398.1:p.Gly952Val
ENST00000635406.1:n.345G>T
NM_000053.3:c.2999G>T	NP_000044.2:p.Gly1000Val
NM_001005918.2:c.2378G>T	NP_001005918.1:p.Gly793Val
NM_001243182.1:c.2666G>T	NP_001230111.1:p.Gly889Val
XM_005266423.2:c.2903G>T	XP_005266480.1:p.Gly968Val
XM_005266424.3:c.2903G>T	XP_005266481.1:p.Gly968Val
XM_005266427.2:c.2765G>T	XP_005266484.1:p.Gly922Val
XM_005266428.1:c.2747G>T	XP_005266485.1:p.Gly916Val
XM_005266430.3:c.2999G>T	XP_005266487.1:p.Gly1000Val
XM_005266431.2:c.2963G>T	XP_005266488.1:p.Gly988Val
XM_005266432.2:c.2513G>T	XP_005266489.1:p.Gly838Val
XM_006719837.2:c.2903G>T	XP_006719900.1:p.Gly968Val
XM_006719838.1:c.815G>T	XP_006719901.1:p.Gly272Val
XM_006719839.1:c.815G>T	XP_006719902.1:p.Gly272Val
XM_011535117.1:c.2903G>T	XP_011533419.1:p.Gly968Val
XM_011535118.1:c.2864G>T	XP_011533420.1:p.Gly955Val
XM_011535119.1:c.2999G>T	XP_011533421.1:p.Gly1000Val
XM_011535120.1:c.2585G>T	XP_011533422.1:p.Gly862Val
XM_011535121.1:c.2730+3662G>T	XP_011533423.1:n.2730+3662G>T
XM_011535122.1:c.1667G>T	XP_011533424.1:p.Gly556Val
XR_941601.1:n.3218G>T
XR_941602.1:n.3218G>T
XR_941603.1:n.3218G>T
XR_941604.1:n.3218G>T
NM_001330578.1:c.2765G>T	NP_001317507.1:p.Gly922Val
NM_001330579.1:c.2747G>T	NP_001317508.1:p.Gly916Val
XM_005266424.4:c.2903G>T	XP_005266481.1:p.Gly968Val
XM_005266430.4:c.2999G>T	XP_005266487.1:p.Gly1000Val
XM_005266431.4:c.2963G>T	XP_005266488.1:p.Gly988Val
XM_006719837.3:c.2903G>T	XP_006719900.1:p.Gly968Val
XM_011535117.3:c.2903G>T	XP_011533419.1:p.Gly968Val
XM_017020627.1:c.2903G>T	XP_016876116.1:p.Gly968Val
NM_000053.4:c.2999G>T MANE Select	NP_000044.2:p.Gly1000Val
NM_001005918.3:c.2378G>T	NP_001005918.1:p.Gly793Val
NM_001330579.2:c.2747G>T	NP_001317508.1:p.Gly916Val
NM_001243182.2:c.2666G>T	NP_001230111.1:p.Gly889Val
NM_001330578.2:c.2765G>T	NP_001317507.1:p.Gly922Val