Canonical Allele Identifier: CA483894866

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3071232
• ClinVar RCV Id: RCV004014734
• dbSNP Id: rs193922105
• gnomAD v3: 13-51946290-C-A
• gnomAD v4: 13-51946290-C-A
• MyVariant Identifiers: chr13:g.52520426C>A (hg19) ; chr13:g.51946290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946290C>A , CM000675.2:g.51946290C>A	GRCh38
NC_000013.10:g.52520426C>A , CM000675.1:g.52520426C>A	GRCh37
NC_000013.9:g.51418427C>A	NCBI36
NG_008806.1:g.70205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*887G>T	ENSP00000489512.2:n.*887G>T
ENST00000673864.2:c.*1798G>T	ENSP00000501045.2:n.*1798G>T
ENST00000674147.2:c.2433G>T	ENSP00000500964.2:p.Ala811=
ENST00000242839.10:c.3054G>T MANE Select	ENSP00000242839.5:p.Ala1018=
ENST00000344297.9:c.2433G>T	ENSP00000342559.5:p.Ala811=
ENST00000400366.6:c.2721G>T	ENSP00000383217.3:p.Ala907=
ENST00000448424.7:c.2802G>T	ENSP00000416738.3:p.Ala934=
ENST00000673772.1:c.2820G>T	ENSP00000501168.1:p.Ala940=
ENST00000673867.1:n.1201G>T
ENST00000674126.1:n.3417G>T
ENST00000674147.1:c.1989G>T	ENSP00000500964.1:p.Ala663=
ENST00000242839.8:c.3054G>T	ENSP00000242839.4:p.Ala1018=
ENST00000344297.8:c.2433G>T	ENSP00000342559.5:p.Ala811=
ENST00000400366.5:c.2721G>T	ENSP00000383217.3:p.Ala907=
ENST00000400370.8:c.1764G>T	ENSP00000383221.3:p.Ala588=
ENST00000418097.7:c.2866-1999G>T	ENSP00000393343.2:n.2866-1999G>T
ENST00000448424.6:c.2820G>T	ENSP00000416738.2:p.Ala940=
ENST00000466629.1:n.274G>T
ENST00000634296.1:c.1015G>T
ENST00000634308.1:c.*155G>T	ENSP00000489234.1:n.*155G>T
ENST00000634620.1:n.3798G>T
ENST00000634810.1:n.2399G>T
ENST00000634844.1:c.2910G>T	ENSP00000489398.1:p.Ala970=
ENST00000635406.1:n.400G>T
NM_000053.3:c.3054G>T	NP_000044.2:p.Ala1018=
NM_001005918.2:c.2433G>T	NP_001005918.1:p.Ala811=
NM_001243182.1:c.2721G>T	NP_001230111.1:p.Ala907=
XM_005266423.2:c.2958G>T	XP_005266480.1:p.Ala986=
XM_005266424.3:c.2958G>T	XP_005266481.1:p.Ala986=
XM_005266427.2:c.2820G>T	XP_005266484.1:p.Ala940=
XM_005266428.1:c.2802G>T	XP_005266485.1:p.Ala934=
XM_005266430.3:c.3054G>T	XP_005266487.1:p.Ala1018=
XM_005266431.2:c.3018G>T	XP_005266488.1:p.Ala1006=
XM_005266432.2:c.2568G>T	XP_005266489.1:p.Ala856=
XM_006719837.2:c.2958G>T	XP_006719900.1:p.Ala986=
XM_006719838.1:c.870G>T	XP_006719901.1:p.Ala290=
XM_006719839.1:c.870G>T	XP_006719902.1:p.Ala290=
XM_011535117.1:c.2958G>T	XP_011533419.1:p.Ala986=
XM_011535118.1:c.2919G>T	XP_011533420.1:p.Ala973=
XM_011535119.1:c.3054G>T	XP_011533421.1:p.Ala1018=
XM_011535120.1:c.2640G>T	XP_011533422.1:p.Ala880=
XM_011535121.1:c.2730+3717G>T	XP_011533423.1:n.2730+3717G>T
XM_011535122.1:c.1722G>T	XP_011533424.1:p.Ala574=
XR_941601.1:n.3273G>T
XR_941602.1:n.3273G>T
XR_941603.1:n.3273G>T
XR_941604.1:n.3273G>T
NM_001330578.1:c.2820G>T	NP_001317507.1:p.Ala940=
NM_001330579.1:c.2802G>T	NP_001317508.1:p.Ala934=
XM_005266424.4:c.2958G>T	XP_005266481.1:p.Ala986=
XM_005266430.4:c.3054G>T	XP_005266487.1:p.Ala1018=
XM_005266431.4:c.3018G>T	XP_005266488.1:p.Ala1006=
XM_006719837.3:c.2958G>T	XP_006719900.1:p.Ala986=
XM_011535117.3:c.2958G>T	XP_011533419.1:p.Ala986=
XM_017020627.1:c.2958G>T	XP_016876116.1:p.Ala986=
NM_000053.4:c.3054G>T MANE Select	NP_000044.2:p.Ala1018=
NM_001005918.3:c.2433G>T	NP_001005918.1:p.Ala811=
NM_001330579.2:c.2802G>T	NP_001317508.1:p.Ala934=
NM_001243182.2:c.2721G>T	NP_001230111.1:p.Ala907=
NM_001330578.2:c.2820G>T	NP_001317507.1:p.Ala940=