Canonical Allele Identifier: CA388029778

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1018093
• ClinVar RCV Id: RCV001317345 ; RCV001844283
• dbSNP Id: rs1376645882
• gnomAD v4: 13-51944117-A-G
• MyVariant Identifiers: chr13:g.52518253A>G (hg19) ; chr13:g.51944117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944117A>G , CM000675.2:g.51944117A>G	GRCh38
NC_000013.10:g.52518253A>G , CM000675.1:g.52518253A>G	GRCh37
NC_000013.9:g.51416254A>G	NCBI36
NG_008806.1:g.72378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1563T>C	ENSP00000489512.2:n.*894-1563T>C
ENST00000673864.2:c.*1979T>C	ENSP00000501045.2:n.*1979T>C
ENST00000674147.2:c.2614T>C	ENSP00000500964.2:p.Cys872Arg
ENST00000242839.10:c.3235T>C MANE Select	ENSP00000242839.5:p.Cys1079Arg
ENST00000344297.9:c.2614T>C	ENSP00000342559.5:p.Cys872Arg
ENST00000400366.6:c.2902T>C	ENSP00000383217.3:p.Cys968Arg
ENST00000448424.7:c.2983T>C	ENSP00000416738.3:p.Cys995Arg
ENST00000673772.1:c.3001T>C	ENSP00000501168.1:p.Cys1001Arg
ENST00000673867.1:n.3374T>C
ENST00000674126.1:n.3598T>C
ENST00000674147.1:c.2170T>C	ENSP00000500964.1:p.Cys724Arg
ENST00000242839.8:c.3235T>C	ENSP00000242839.4:p.Cys1079Arg
ENST00000344297.8:c.2614T>C	ENSP00000342559.5:p.Cys872Arg
ENST00000400366.5:c.2902T>C	ENSP00000383217.3:p.Cys968Arg
ENST00000400370.8:c.1945T>C	ENSP00000383221.3:p.Cys649Arg
ENST00000418097.7:c.3040T>C	ENSP00000393343.2:p.Cys1014Arg
ENST00000448424.6:c.3001T>C	ENSP00000416738.2:p.Cys1001Arg
ENST00000466629.1:n.455T>C
ENST00000634296.1:c.1022-1563T>C
ENST00000634308.1:c.*336T>C	ENSP00000489234.1:n.*336T>C
ENST00000634620.1:n.3979T>C
ENST00000634810.1:n.2580T>C
ENST00000634844.1:c.3091T>C	ENSP00000489398.1:p.Cys1031Arg
NM_000053.3:c.3235T>C	NP_000044.2:p.Cys1079Arg
NM_001005918.2:c.2614T>C	NP_001005918.1:p.Cys872Arg
NM_001243182.1:c.2902T>C	NP_001230111.1:p.Cys968Arg
XM_005266423.2:c.3139T>C	XP_005266480.1:p.Cys1047Arg
XM_005266424.3:c.3139T>C	XP_005266481.1:p.Cys1047Arg
XM_005266427.2:c.3001T>C	XP_005266484.1:p.Cys1001Arg
XM_005266428.1:c.2983T>C	XP_005266485.1:p.Cys995Arg
XM_005266430.3:c.3235T>C	XP_005266487.1:p.Cys1079Arg
XM_005266431.2:c.3199T>C	XP_005266488.1:p.Cys1067Arg
XM_005266432.2:c.2749T>C	XP_005266489.1:p.Cys917Arg
XM_006719837.2:c.3139T>C	XP_006719900.1:p.Cys1047Arg
XM_006719838.1:c.1051T>C	XP_006719901.1:p.Cys351Arg
XM_006719839.1:c.877-1563T>C	XP_006719902.1:n.877-1563T>C
XM_011535117.1:c.3139T>C	XP_011533419.1:p.Cys1047Arg
XM_011535118.1:c.3100T>C	XP_011533420.1:p.Cys1034Arg
XM_011535119.1:c.3061-1563T>C	XP_011533421.1:n.3061-1563T>C
XM_011535120.1:c.2821T>C	XP_011533422.1:p.Cys941Arg
XM_011535121.1:c.2731-1563T>C	XP_011533423.1:n.2731-1563T>C
XM_011535122.1:c.1903T>C	XP_011533424.1:p.Cys635Arg
XR_941601.1:n.3454T>C
XR_941602.1:n.3454T>C
XR_941603.1:n.3454T>C
XR_941604.1:n.3454T>C
NM_001330578.1:c.3001T>C	NP_001317507.1:p.Cys1001Arg
NM_001330579.1:c.2983T>C	NP_001317508.1:p.Cys995Arg
XM_005266424.4:c.3139T>C	XP_005266481.1:p.Cys1047Arg
XM_005266430.4:c.3235T>C	XP_005266487.1:p.Cys1079Arg
XM_005266431.4:c.3199T>C	XP_005266488.1:p.Cys1067Arg
XM_006719837.3:c.3139T>C	XP_006719900.1:p.Cys1047Arg
XM_011535117.3:c.3139T>C	XP_011533419.1:p.Cys1047Arg
XM_017020627.1:c.3139T>C	XP_016876116.1:p.Cys1047Arg
NM_000053.4:c.3235T>C MANE Select	NP_000044.2:p.Cys1079Arg
NM_001005918.3:c.2614T>C	NP_001005918.1:p.Cys872Arg
NM_001330579.2:c.2983T>C	NP_001317508.1:p.Cys995Arg
NM_001243182.2:c.2902T>C	NP_001230111.1:p.Cys968Arg
NM_001330578.2:c.3001T>C	NP_001317507.1:p.Cys1001Arg