Canonical Allele Identifier: CA388028926

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3073800
• ClinVar RCV Id: RCV004016806
• gnomAD v4: 13-51942540-C-G
• MyVariant Identifiers: chr13:g.52516676C>G (hg19) ; chr13:g.51942540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942540C>G , CM000675.2:g.51942540C>G	GRCh38
NC_000013.10:g.52516676C>G , CM000675.1:g.52516676C>G	GRCh37
NC_000013.9:g.51414677C>G	NCBI36
NG_008806.1:g.73955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*908G>C	ENSP00000489512.2:n.*908G>C
ENST00000673864.2:c.*2002G>C	ENSP00000501045.2:n.*2002G>C
ENST00000674147.2:c.2637G>C	ENSP00000500964.2:p.Glu879Asp
ENST00000242839.10:c.3258G>C MANE Select	ENSP00000242839.5:p.Glu1086Asp
ENST00000344297.9:c.2637G>C	ENSP00000342559.5:p.Glu879Asp
ENST00000400366.6:c.2925G>C	ENSP00000383217.3:p.Glu975Asp
ENST00000448424.7:c.3006G>C	ENSP00000416738.3:p.Glu1002Asp
ENST00000673772.1:c.3024G>C	ENSP00000501168.1:p.Glu1008Asp
ENST00000673867.1:n.3397G>C
ENST00000674126.1:n.3621G>C
ENST00000674147.1:c.2193G>C	ENSP00000500964.1:p.Glu731Asp
ENST00000242839.8:c.3258G>C	ENSP00000242839.4:p.Glu1086Asp
ENST00000344297.8:c.2637G>C	ENSP00000342559.5:p.Glu879Asp
ENST00000400366.5:c.2925G>C	ENSP00000383217.3:p.Glu975Asp
ENST00000400370.8:c.1968G>C	ENSP00000383221.3:p.Glu656Asp
ENST00000418097.7:c.3063G>C	ENSP00000393343.2:p.Glu1021Asp
ENST00000448424.6:c.3024G>C	ENSP00000416738.2:p.Glu1008Asp
ENST00000634296.1:c.1036G>C
ENST00000634308.1:c.*359G>C	ENSP00000489234.1:n.*359G>C
ENST00000634620.1:n.4002G>C
ENST00000634810.1:n.2603G>C
ENST00000634844.1:c.3114G>C	ENSP00000489398.1:p.Glu1038Asp
NM_000053.3:c.3258G>C	NP_000044.2:p.Glu1086Asp
NM_001005918.2:c.2637G>C	NP_001005918.1:p.Glu879Asp
NM_001243182.1:c.2925G>C	NP_001230111.1:p.Glu975Asp
XM_005266423.2:c.3162G>C	XP_005266480.1:p.Glu1054Asp
XM_005266424.3:c.3162G>C	XP_005266481.1:p.Glu1054Asp
XM_005266427.2:c.3024G>C	XP_005266484.1:p.Glu1008Asp
XM_005266428.1:c.3006G>C	XP_005266485.1:p.Glu1002Asp
XM_005266430.3:c.3258G>C	XP_005266487.1:p.Glu1086Asp
XM_005266431.2:c.3222G>C	XP_005266488.1:p.Glu1074Asp
XM_005266432.2:c.2772G>C	XP_005266489.1:p.Glu924Asp
XM_006719837.2:c.3162G>C	XP_006719900.1:p.Glu1054Asp
XM_006719838.1:c.1074G>C	XP_006719901.1:p.Glu358Asp
XM_006719839.1:c.891G>C	XP_006719902.1:p.Glu297Asp
XM_011535117.1:c.3162G>C	XP_011533419.1:p.Glu1054Asp
XM_011535118.1:c.3123G>C	XP_011533420.1:p.Glu1041Asp
XM_011535119.1:c.3075G>C	XP_011533421.1:p.Glu1025Asp
XM_011535120.1:c.2844G>C	XP_011533422.1:p.Glu948Asp
XM_011535121.1:c.2745G>C	XP_011533423.1:p.Glu915Asp
XM_011535122.1:c.1926G>C	XP_011533424.1:p.Glu642Asp
XR_941601.1:n.3477G>C
XR_941602.1:n.3477G>C
XR_941603.1:n.3477G>C
XR_941604.1:n.3477G>C
NM_001330578.1:c.3024G>C	NP_001317507.1:p.Glu1008Asp
NM_001330579.1:c.3006G>C	NP_001317508.1:p.Glu1002Asp
XM_005266424.4:c.3162G>C	XP_005266481.1:p.Glu1054Asp
XM_005266430.4:c.3258G>C	XP_005266487.1:p.Glu1086Asp
XM_005266431.4:c.3222G>C	XP_005266488.1:p.Glu1074Asp
XM_006719837.3:c.3162G>C	XP_006719900.1:p.Glu1054Asp
XM_011535117.3:c.3162G>C	XP_011533419.1:p.Glu1054Asp
XM_017020627.1:c.3162G>C	XP_016876116.1:p.Glu1054Asp
NM_000053.4:c.3258G>C MANE Select	NP_000044.2:p.Glu1086Asp
NM_001005918.3:c.2637G>C	NP_001005918.1:p.Glu879Asp
NM_001330579.2:c.3006G>C	NP_001317508.1:p.Glu1002Asp
NM_001243182.2:c.2925G>C	NP_001230111.1:p.Glu975Asp
NM_001330578.2:c.3024G>C	NP_001317507.1:p.Glu1008Asp