Canonical Allele Identifier: CA483894612

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518251A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944115A>G , CM000675.2:g.51944115A>G	GRCh38
NC_000013.10:g.52518251A>G , CM000675.1:g.52518251A>G	GRCh37
NC_000013.9:g.51416252A>G	NCBI36
NG_008806.1:g.72380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1561T>C	ENSP00000489512.2:n.*894-1561T>C
ENST00000673864.2:c.*1981T>C	ENSP00000501045.2:n.*1981T>C
ENST00000674147.2:c.2616T>C	ENSP00000500964.2:p.Cys872=
ENST00000242839.10:c.3237T>C MANE Select	ENSP00000242839.5:p.Cys1079=
ENST00000344297.9:c.2616T>C	ENSP00000342559.5:p.Cys872=
ENST00000400366.6:c.2904T>C	ENSP00000383217.3:p.Cys968=
ENST00000448424.7:c.2985T>C	ENSP00000416738.3:p.Cys995=
ENST00000673772.1:c.3003T>C	ENSP00000501168.1:p.Cys1001=
ENST00000673867.1:n.3376T>C
ENST00000674126.1:n.3600T>C
ENST00000674147.1:c.2172T>C	ENSP00000500964.1:p.Cys724=
ENST00000242839.8:c.3237T>C	ENSP00000242839.4:p.Cys1079=
ENST00000344297.8:c.2616T>C	ENSP00000342559.5:p.Cys872=
ENST00000400366.5:c.2904T>C	ENSP00000383217.3:p.Cys968=
ENST00000400370.8:c.1947T>C	ENSP00000383221.3:p.Cys649=
ENST00000418097.7:c.3042T>C	ENSP00000393343.2:p.Cys1014=
ENST00000448424.6:c.3003T>C	ENSP00000416738.2:p.Cys1001=
ENST00000466629.1:n.457T>C
ENST00000634296.1:c.1022-1561T>C
ENST00000634308.1:c.*338T>C	ENSP00000489234.1:n.*338T>C
ENST00000634620.1:n.3981T>C
ENST00000634810.1:n.2582T>C
ENST00000634844.1:c.3093T>C	ENSP00000489398.1:p.Cys1031=
NM_000053.3:c.3237T>C	NP_000044.2:p.Cys1079=
NM_001005918.2:c.2616T>C	NP_001005918.1:p.Cys872=
NM_001243182.1:c.2904T>C	NP_001230111.1:p.Cys968=
XM_005266423.2:c.3141T>C	XP_005266480.1:p.Cys1047=
XM_005266424.3:c.3141T>C	XP_005266481.1:p.Cys1047=
XM_005266427.2:c.3003T>C	XP_005266484.1:p.Cys1001=
XM_005266428.1:c.2985T>C	XP_005266485.1:p.Cys995=
XM_005266430.3:c.3237T>C	XP_005266487.1:p.Cys1079=
XM_005266431.2:c.3201T>C	XP_005266488.1:p.Cys1067=
XM_005266432.2:c.2751T>C	XP_005266489.1:p.Cys917=
XM_006719837.2:c.3141T>C	XP_006719900.1:p.Cys1047=
XM_006719838.1:c.1053T>C	XP_006719901.1:p.Cys351=
XM_006719839.1:c.877-1561T>C	XP_006719902.1:n.877-1561T>C
XM_011535117.1:c.3141T>C	XP_011533419.1:p.Cys1047=
XM_011535118.1:c.3102T>C	XP_011533420.1:p.Cys1034=
XM_011535119.1:c.3061-1561T>C	XP_011533421.1:n.3061-1561T>C
XM_011535120.1:c.2823T>C	XP_011533422.1:p.Cys941=
XM_011535121.1:c.2731-1561T>C	XP_011533423.1:n.2731-1561T>C
XM_011535122.1:c.1905T>C	XP_011533424.1:p.Cys635=
XR_941601.1:n.3456T>C
XR_941602.1:n.3456T>C
XR_941603.1:n.3456T>C
XR_941604.1:n.3456T>C
NM_001330578.1:c.3003T>C	NP_001317507.1:p.Cys1001=
NM_001330579.1:c.2985T>C	NP_001317508.1:p.Cys995=
XM_005266424.4:c.3141T>C	XP_005266481.1:p.Cys1047=
XM_005266430.4:c.3237T>C	XP_005266487.1:p.Cys1079=
XM_005266431.4:c.3201T>C	XP_005266488.1:p.Cys1067=
XM_006719837.3:c.3141T>C	XP_006719900.1:p.Cys1047=
XM_011535117.3:c.3141T>C	XP_011533419.1:p.Cys1047=
XM_017020627.1:c.3141T>C	XP_016876116.1:p.Cys1047=
NM_000053.4:c.3237T>C MANE Select	NP_000044.2:p.Cys1079=
NM_001005918.3:c.2616T>C	NP_001005918.1:p.Cys872=
NM_001330579.2:c.2985T>C	NP_001317508.1:p.Cys995=
NM_001243182.2:c.2904T>C	NP_001230111.1:p.Cys968=
NM_001330578.2:c.3003T>C	NP_001317507.1:p.Cys1001=