Canonical Allele Identifier: CA6988839

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 557405
• ClinVar RCV Id: RCV003319396
• dbSNP Id: rs751078884
• ExAC: 13:52520482 C / T
• gnomAD v2: 13-52520482-C-T
• gnomAD v3: 13-51946346-C-T
• gnomAD v4: 13-51946346-C-T
• MyVariant Identifiers: chr13:g.52520482C>T (hg19) ; chr13:g.51946346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946346C>T , CM000675.2:g.51946346C>T	GRCh38
NC_000013.10:g.52520482C>T , CM000675.1:g.52520482C>T	GRCh37
NC_000013.9:g.51418483C>T	NCBI36
NG_008806.1:g.70149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*831G>A	ENSP00000489512.2:n.*831G>A
ENST00000673864.2:c.*1742G>A	ENSP00000501045.2:n.*1742G>A
ENST00000674147.2:c.2377G>A	ENSP00000500964.2:p.Gly793Arg
ENST00000242839.10:c.2998G>A MANE Select	ENSP00000242839.5:p.Gly1000Arg
ENST00000344297.9:c.2377G>A	ENSP00000342559.5:p.Gly793Arg
ENST00000400366.6:c.2665G>A	ENSP00000383217.3:p.Gly889Arg
ENST00000448424.7:c.2746G>A	ENSP00000416738.3:p.Gly916Arg
ENST00000673772.1:c.2764G>A	ENSP00000501168.1:p.Gly922Arg
ENST00000673867.1:n.1145G>A
ENST00000674126.1:n.3361G>A
ENST00000674147.1:c.1933G>A	ENSP00000500964.1:p.Gly645Arg
ENST00000242839.8:c.2998G>A	ENSP00000242839.4:p.Gly1000Arg
ENST00000344297.8:c.2377G>A	ENSP00000342559.5:p.Gly793Arg
ENST00000400366.5:c.2665G>A	ENSP00000383217.3:p.Gly889Arg
ENST00000400370.8:c.1708G>A	ENSP00000383221.3:p.Gly570Arg
ENST00000418097.7:c.2866-2055G>A	ENSP00000393343.2:n.2866-2055G>A
ENST00000448424.6:c.2764G>A	ENSP00000416738.2:p.Gly922Arg
ENST00000466629.1:n.218G>A
ENST00000634296.1:c.959G>A
ENST00000634308.1:c.*99G>A	ENSP00000489234.1:n.*99G>A
ENST00000634620.1:n.3742G>A
ENST00000634810.1:n.2343G>A
ENST00000634844.1:c.2854G>A	ENSP00000489398.1:p.Gly952Arg
ENST00000635406.1:n.344G>A
NM_000053.3:c.2998G>A	NP_000044.2:p.Gly1000Arg
NM_001005918.2:c.2377G>A	NP_001005918.1:p.Gly793Arg
NM_001243182.1:c.2665G>A	NP_001230111.1:p.Gly889Arg
XM_005266423.2:c.2902G>A	XP_005266480.1:p.Gly968Arg
XM_005266424.3:c.2902G>A	XP_005266481.1:p.Gly968Arg
XM_005266427.2:c.2764G>A	XP_005266484.1:p.Gly922Arg
XM_005266428.1:c.2746G>A	XP_005266485.1:p.Gly916Arg
XM_005266430.3:c.2998G>A	XP_005266487.1:p.Gly1000Arg
XM_005266431.2:c.2962G>A	XP_005266488.1:p.Gly988Arg
XM_005266432.2:c.2512G>A	XP_005266489.1:p.Gly838Arg
XM_006719837.2:c.2902G>A	XP_006719900.1:p.Gly968Arg
XM_006719838.1:c.814G>A	XP_006719901.1:p.Gly272Arg
XM_006719839.1:c.814G>A	XP_006719902.1:p.Gly272Arg
XM_011535117.1:c.2902G>A	XP_011533419.1:p.Gly968Arg
XM_011535118.1:c.2863G>A	XP_011533420.1:p.Gly955Arg
XM_011535119.1:c.2998G>A	XP_011533421.1:p.Gly1000Arg
XM_011535120.1:c.2584G>A	XP_011533422.1:p.Gly862Arg
XM_011535121.1:c.2730+3661G>A	XP_011533423.1:n.2730+3661G>A
XM_011535122.1:c.1666G>A	XP_011533424.1:p.Gly556Arg
XR_941601.1:n.3217G>A
XR_941602.1:n.3217G>A
XR_941603.1:n.3217G>A
XR_941604.1:n.3217G>A
NM_001330578.1:c.2764G>A	NP_001317507.1:p.Gly922Arg
NM_001330579.1:c.2746G>A	NP_001317508.1:p.Gly916Arg
XM_005266424.4:c.2902G>A	XP_005266481.1:p.Gly968Arg
XM_005266430.4:c.2998G>A	XP_005266487.1:p.Gly1000Arg
XM_005266431.4:c.2962G>A	XP_005266488.1:p.Gly988Arg
XM_006719837.3:c.2902G>A	XP_006719900.1:p.Gly968Arg
XM_011535117.3:c.2902G>A	XP_011533419.1:p.Gly968Arg
XM_017020627.1:c.2902G>A	XP_016876116.1:p.Gly968Arg
NM_000053.4:c.2998G>A MANE Select	NP_000044.2:p.Gly1000Arg
NM_001005918.3:c.2377G>A	NP_001005918.1:p.Gly793Arg
NM_001330579.2:c.2746G>A	NP_001317508.1:p.Gly916Arg
NM_001243182.2:c.2665G>A	NP_001230111.1:p.Gly889Arg
NM_001330578.2:c.2764G>A	NP_001317507.1:p.Gly922Arg