Canonical Allele Identifier: CA388021465

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2016080
• ClinVar RCV Id: RCV002843719
• gnomAD v4: 13-51937499-C-T
• MyVariant Identifiers: chr13:g.52511635C>T (hg19) ; chr13:g.51937499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937499C>T , CM000675.2:g.51937499C>T	GRCh38
NC_000013.10:g.52511635C>T , CM000675.1:g.52511635C>T	GRCh37
NC_000013.9:g.51409636C>T	NCBI36
NG_008806.1:g.78996G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1530G>A	ENSP00000489512.2:n.*1530G>A
ENST00000673864.2:c.*2624G>A	ENSP00000501045.2:n.*2624G>A
ENST00000674147.2:c.3259G>A	ENSP00000500964.2:p.Ala1087Thr
ENST00000242839.10:c.3880G>A MANE Select	ENSP00000242839.5:p.Ala1294Thr
ENST00000344297.9:c.3259G>A	ENSP00000342559.5:p.Ala1087Thr
ENST00000400366.6:c.3547G>A	ENSP00000383217.3:p.Ala1183Thr
ENST00000448424.7:c.3628G>A	ENSP00000416738.3:p.Ala1210Thr
ENST00000673696.1:n.1121G>A
ENST00000673772.1:c.3646G>A	ENSP00000501168.1:p.Ala1216Thr
ENST00000673867.1:n.4019G>A
ENST00000673923.1:n.746G>A
ENST00000674147.1:c.2815G>A	ENSP00000500964.1:p.Ala939Thr
ENST00000242839.8:c.3880G>A	ENSP00000242839.4:p.Ala1294Thr
ENST00000344297.8:c.3259G>A	ENSP00000342559.5:p.Ala1087Thr
ENST00000400366.5:c.3547G>A	ENSP00000383217.3:p.Ala1183Thr
ENST00000400370.8:c.2590G>A	ENSP00000383221.3:p.Ala864Thr
ENST00000418097.7:c.3685G>A	ENSP00000393343.2:p.Ala1229Thr
ENST00000448424.6:c.3646G>A	ENSP00000416738.2:p.Ala1216Thr
ENST00000634296.1:c.1658G>A
ENST00000634308.1:c.*981G>A	ENSP00000489234.1:n.*981G>A
ENST00000634620.1:n.4624G>A
ENST00000634810.1:n.3225G>A
ENST00000634844.1:c.3736G>A	ENSP00000489398.1:p.Ala1246Thr
NM_000053.3:c.3880G>A	NP_000044.2:p.Ala1294Thr
NM_001005918.2:c.3259G>A	NP_001005918.1:p.Ala1087Thr
NM_001243182.1:c.3547G>A	NP_001230111.1:p.Ala1183Thr
XM_005266423.2:c.3784G>A	XP_005266480.1:p.Ala1262Thr
XM_005266424.3:c.3784G>A	XP_005266481.1:p.Ala1262Thr
XM_005266427.2:c.3646G>A	XP_005266484.1:p.Ala1216Thr
XM_005266428.1:c.3628G>A	XP_005266485.1:p.Ala1210Thr
XM_005266430.3:c.3880G>A	XP_005266487.1:p.Ala1294Thr
XM_005266431.2:c.3844G>A	XP_005266488.1:p.Ala1282Thr
XM_005266432.2:c.3394G>A	XP_005266489.1:p.Ala1132Thr
XM_006719837.2:c.3784G>A	XP_006719900.1:p.Ala1262Thr
XM_006719838.1:c.1696G>A	XP_006719901.1:p.Ala566Thr
XM_006719839.1:c.1513G>A	XP_006719902.1:p.Ala505Thr
XM_011535117.1:c.3784G>A	XP_011533419.1:p.Ala1262Thr
XM_011535118.1:c.3745G>A	XP_011533420.1:p.Ala1249Thr
XM_011535119.1:c.3697G>A	XP_011533421.1:p.Ala1233Thr
XM_011535120.1:c.3466G>A	XP_011533422.1:p.Ala1156Thr
XM_011535121.1:c.3367G>A	XP_011533423.1:p.Ala1123Thr
XM_011535122.1:c.2548G>A	XP_011533424.1:p.Ala850Thr
XR_941601.1:n.4099G>A
XR_941602.1:n.4099G>A
XR_941603.1:n.4099G>A
XR_941604.1:n.4099G>A
NM_001330578.1:c.3646G>A	NP_001317507.1:p.Ala1216Thr
NM_001330579.1:c.3628G>A	NP_001317508.1:p.Ala1210Thr
XM_005266424.4:c.3784G>A	XP_005266481.1:p.Ala1262Thr
XM_005266430.4:c.3880G>A	XP_005266487.1:p.Ala1294Thr
XM_005266431.4:c.3844G>A	XP_005266488.1:p.Ala1282Thr
XM_006719837.3:c.3784G>A	XP_006719900.1:p.Ala1262Thr
XM_011535117.3:c.3784G>A	XP_011533419.1:p.Ala1262Thr
XM_017020627.1:c.3784G>A	XP_016876116.1:p.Ala1262Thr
NM_000053.4:c.3880G>A MANE Select	NP_000044.2:p.Ala1294Thr
NM_001005918.3:c.3259G>A	NP_001005918.1:p.Ala1087Thr
NM_001330579.2:c.3628G>A	NP_001317508.1:p.Ala1210Thr
NM_001243182.2:c.3547G>A	NP_001230111.1:p.Ala1183Thr
NM_001330578.2:c.3646G>A	NP_001317507.1:p.Ala1216Thr