Canonical Allele Identifier: CA260156

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 35734
• ClinVar RCV Id: RCV000029383 ; RCV000865113 ; RCV001420713
• dbSNP Id: rs193922100
• ExAC: 13:52508876 C / T
• gnomAD v2: 13-52508876-C-T
• gnomAD v3: 13-51934740-C-T
• gnomAD v4: 13-51934740-C-T
• MyVariant Identifiers: chr13:g.52508876C>T (hg19) ; chr13:g.51934740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934740C>T , CM000675.2:g.51934740C>T	GRCh38
NC_000013.10:g.52508876C>T , CM000675.1:g.52508876C>T	GRCh37
NC_000013.9:g.51406877C>T	NCBI36
NG_008806.1:g.81755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*2064G>A	ENSP00000489512.2:n.*2064G>A
ENST00000673864.2:c.*3158G>A	ENSP00000501045.2:n.*3158G>A
ENST00000674147.2:c.*16G>A	ENSP00000500964.2:n.*16G>A
ENST00000242839.10:c.*16G>A MANE Select	ENSP00000242839.5:n.*16G>A
ENST00000344297.9:c.*16G>A	ENSP00000342559.5:n.*16G>A
ENST00000448424.7:c.*16G>A	ENSP00000416738.3:n.*16G>A
ENST00000673696.1:n.1737G>A
ENST00000673772.1:c.*16G>A	ENSP00000501168.1:n.*16G>A
ENST00000673867.1:n.4553G>A
ENST00000673923.1:n.1280G>A
ENST00000674147.1:c.3349G>A	ENSP00000500964.1:n.3349G>A
ENST00000242839.8:c.*16G>A	ENSP00000242839.4:n.*16G>A
ENST00000344297.8:c.*16G>A	ENSP00000342559.5:n.*16G>A
ENST00000400366.5:c.*16G>A	ENSP00000383217.3:n.*16G>A
ENST00000400370.8:c.*16G>A	ENSP00000383221.3:n.*16G>A
ENST00000418097.7:c.*16G>A	ENSP00000393343.2:n.*16G>A
ENST00000448424.6:c.*16G>A	ENSP00000416738.2:n.*16G>A
ENST00000634296.1:c.2192G>A
ENST00000634308.1:c.*1515G>A	ENSP00000489234.1:n.*1515G>A
ENST00000634620.1:n.5158G>A
ENST00000634810.1:n.3759G>A
ENST00000634844.1:c.*16G>A	ENSP00000489398.1:n.*16G>A
NM_000053.3:c.*16G>A	NP_000044.2:n.*16G>A
NM_001005918.2:c.*16G>A	NP_001005918.1:n.*16G>A
NM_001243182.1:c.*16G>A	NP_001230111.1:n.*16G>A
XM_005266423.2:c.*16G>A	XP_005266480.1:n.*16G>A
XM_005266424.3:c.*16G>A	XP_005266481.1:n.*16G>A
XM_005266427.2:c.*16G>A	XP_005266484.1:n.*16G>A
XM_005266428.1:c.*16G>A	XP_005266485.1:n.*16G>A
XM_005266430.3:c.*16G>A	XP_005266487.1:n.*16G>A
XM_005266431.2:c.*16G>A	XP_005266488.1:n.*16G>A
XM_005266432.2:c.*16G>A	XP_005266489.1:n.*16G>A
XM_006719837.2:c.*16G>A	XP_006719900.1:n.*16G>A
XM_006719838.1:c.*16G>A	XP_006719901.1:n.*16G>A
XM_006719839.1:c.*16G>A	XP_006719902.1:n.*16G>A
XM_011535117.1:c.*16G>A	XP_011533419.1:n.*16G>A
XM_011535118.1:c.*16G>A	XP_011533420.1:n.*16G>A
XM_011535119.1:c.*16G>A	XP_011533421.1:n.*16G>A
XM_011535120.1:c.*16G>A	XP_011533422.1:n.*16G>A
XM_011535121.1:c.*16G>A	XP_011533423.1:n.*16G>A
XM_011535122.1:c.*16G>A	XP_011533424.1:n.*16G>A
XR_941601.1:n.4633G>A
XR_941602.1:n.4633G>A
XR_941603.1:n.4633G>A
XR_941604.1:n.4633G>A
NM_001330578.1:c.*16G>A	NP_001317507.1:n.*16G>A
NM_001330579.1:c.*16G>A	NP_001317508.1:n.*16G>A
XM_005266424.4:c.*16G>A	XP_005266481.1:n.*16G>A
XM_005266430.4:c.*16G>A	XP_005266487.1:n.*16G>A
XM_005266431.4:c.*16G>A	XP_005266488.1:n.*16G>A
XM_006719837.3:c.*16G>A	XP_006719900.1:n.*16G>A
XM_011535117.3:c.*16G>A	XP_011533419.1:n.*16G>A
XM_017020627.1:c.*16G>A	XP_016876116.1:n.*16G>A
NM_000053.4:c.*16G>A MANE Select	NP_000044.2:n.*16G>A
NM_001005918.3:c.*16G>A	NP_001005918.1:n.*16G>A
NM_001330579.2:c.*16G>A	NP_001317508.1:n.*16G>A
NM_001243182.2:c.*16G>A	NP_001230111.1:n.*16G>A
NM_001330578.2:c.*16G>A	NP_001317507.1:n.*16G>A