Canonical Allele Identifier: CA388028762

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516653A>C (hg19) ; chr13:g.51942517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942517A>C , CM000675.2:g.51942517A>C	GRCh38
NC_000013.10:g.52516653A>C , CM000675.1:g.52516653A>C	GRCh37
NC_000013.9:g.51414654A>C	NCBI36
NG_008806.1:g.73978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*931T>G	ENSP00000489512.2:n.*931T>G
ENST00000673864.2:c.*2025T>G	ENSP00000501045.2:n.*2025T>G
ENST00000674147.2:c.2660T>G	ENSP00000500964.2:p.Phe887Cys
ENST00000242839.10:c.3281T>G MANE Select	ENSP00000242839.5:p.Phe1094Cys
ENST00000344297.9:c.2660T>G	ENSP00000342559.5:p.Phe887Cys
ENST00000400366.6:c.2948T>G	ENSP00000383217.3:p.Phe983Cys
ENST00000448424.7:c.3029T>G	ENSP00000416738.3:p.Phe1010Cys
ENST00000673772.1:c.3047T>G	ENSP00000501168.1:p.Phe1016Cys
ENST00000673867.1:n.3420T>G
ENST00000674126.1:n.3644T>G
ENST00000674147.1:c.2216T>G	ENSP00000500964.1:p.Phe739Cys
ENST00000242839.8:c.3281T>G	ENSP00000242839.4:p.Phe1094Cys
ENST00000344297.8:c.2660T>G	ENSP00000342559.5:p.Phe887Cys
ENST00000400366.5:c.2948T>G	ENSP00000383217.3:p.Phe983Cys
ENST00000400370.8:c.1991T>G	ENSP00000383221.3:p.Phe664Cys
ENST00000418097.7:c.3086T>G	ENSP00000393343.2:p.Phe1029Cys
ENST00000448424.6:c.3047T>G	ENSP00000416738.2:p.Phe1016Cys
ENST00000634296.1:c.1059T>G
ENST00000634308.1:c.*382T>G	ENSP00000489234.1:n.*382T>G
ENST00000634620.1:n.4025T>G
ENST00000634810.1:n.2626T>G
ENST00000634844.1:c.3137T>G	ENSP00000489398.1:p.Phe1046Cys
NM_000053.3:c.3281T>G	NP_000044.2:p.Phe1094Cys
NM_001005918.2:c.2660T>G	NP_001005918.1:p.Phe887Cys
NM_001243182.1:c.2948T>G	NP_001230111.1:p.Phe983Cys
XM_005266423.2:c.3185T>G	XP_005266480.1:p.Phe1062Cys
XM_005266424.3:c.3185T>G	XP_005266481.1:p.Phe1062Cys
XM_005266427.2:c.3047T>G	XP_005266484.1:p.Phe1016Cys
XM_005266428.1:c.3029T>G	XP_005266485.1:p.Phe1010Cys
XM_005266430.3:c.3281T>G	XP_005266487.1:p.Phe1094Cys
XM_005266431.2:c.3245T>G	XP_005266488.1:p.Phe1082Cys
XM_005266432.2:c.2795T>G	XP_005266489.1:p.Phe932Cys
XM_006719837.2:c.3185T>G	XP_006719900.1:p.Phe1062Cys
XM_006719838.1:c.1097T>G	XP_006719901.1:p.Phe366Cys
XM_006719839.1:c.914T>G	XP_006719902.1:p.Phe305Cys
XM_011535117.1:c.3185T>G	XP_011533419.1:p.Phe1062Cys
XM_011535118.1:c.3146T>G	XP_011533420.1:p.Phe1049Cys
XM_011535119.1:c.3098T>G	XP_011533421.1:p.Phe1033Cys
XM_011535120.1:c.2867T>G	XP_011533422.1:p.Phe956Cys
XM_011535121.1:c.2768T>G	XP_011533423.1:p.Phe923Cys
XM_011535122.1:c.1949T>G	XP_011533424.1:p.Phe650Cys
XR_941601.1:n.3500T>G
XR_941602.1:n.3500T>G
XR_941603.1:n.3500T>G
XR_941604.1:n.3500T>G
NM_001330578.1:c.3047T>G	NP_001317507.1:p.Phe1016Cys
NM_001330579.1:c.3029T>G	NP_001317508.1:p.Phe1010Cys
XM_005266424.4:c.3185T>G	XP_005266481.1:p.Phe1062Cys
XM_005266430.4:c.3281T>G	XP_005266487.1:p.Phe1094Cys
XM_005266431.4:c.3245T>G	XP_005266488.1:p.Phe1082Cys
XM_006719837.3:c.3185T>G	XP_006719900.1:p.Phe1062Cys
XM_011535117.3:c.3185T>G	XP_011533419.1:p.Phe1062Cys
XM_017020627.1:c.3185T>G	XP_016876116.1:p.Phe1062Cys
NM_000053.4:c.3281T>G MANE Select	NP_000044.2:p.Phe1094Cys
NM_001005918.3:c.2660T>G	NP_001005918.1:p.Phe887Cys
NM_001330579.2:c.3029T>G	NP_001317508.1:p.Phe1010Cys
NM_001243182.2:c.2948T>G	NP_001230111.1:p.Phe983Cys
NM_001330578.2:c.3047T>G	NP_001317507.1:p.Phe1016Cys