Canonical Allele Identifier: CA250082269

Gene: ATP7B

Linked Data

• dbSNP Id: rs60003608
• MyVariant Identifiers: chr13:g.52520581T>A (hg19) ; chr13:g.51946445T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946445T>A , CM000675.2:g.51946445T>A	GRCh38
NC_000013.10:g.52520581T>A , CM000675.1:g.52520581T>A	GRCh37
NC_000013.9:g.51418582T>A	NCBI36
NG_008806.1:g.70050A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*732A>T	ENSP00000489512.2:n.*732A>T
ENST00000673864.2:c.*1643A>T	ENSP00000501045.2:n.*1643A>T
ENST00000674147.2:c.2278A>T	ENSP00000500964.2:p.Ile760Phe
ENST00000242839.10:c.2899A>T MANE Select	ENSP00000242839.5:p.Ile967Phe
ENST00000344297.9:c.2278A>T	ENSP00000342559.5:p.Ile760Phe
ENST00000400366.6:c.2566A>T	ENSP00000383217.3:p.Ile856Phe
ENST00000448424.7:c.2647A>T	ENSP00000416738.3:p.Ile883Phe
ENST00000673772.1:c.2665A>T	ENSP00000501168.1:p.Ile889Phe
ENST00000673867.1:n.1046A>T
ENST00000674126.1:n.3262A>T
ENST00000674147.1:c.1834A>T	ENSP00000500964.1:p.Ile612Phe
ENST00000242839.8:c.2899A>T	ENSP00000242839.4:p.Ile967Phe
ENST00000344297.8:c.2278A>T	ENSP00000342559.5:p.Ile760Phe
ENST00000400366.5:c.2566A>T	ENSP00000383217.3:p.Ile856Phe
ENST00000400370.8:c.1609A>T	ENSP00000383221.3:p.Ile537Phe
ENST00000418097.7:c.2866-2154A>T	ENSP00000393343.2:n.2866-2154A>T
ENST00000448424.6:c.2665A>T	ENSP00000416738.2:p.Ile889Phe
ENST00000466629.1:n.119A>T
ENST00000634296.1:c.860A>T
ENST00000634308.1:c.2685A>T	ENSP00000489234.1:p.Ter895Cys
ENST00000634620.1:n.3643A>T
ENST00000634810.1:n.2244A>T
ENST00000634844.1:c.2755A>T	ENSP00000489398.1:p.Ile919Phe
ENST00000635406.1:n.245A>T
NM_000053.3:c.2899A>T	NP_000044.2:p.Ile967Phe
NM_001005918.2:c.2278A>T	NP_001005918.1:p.Ile760Phe
NM_001243182.1:c.2566A>T	NP_001230111.1:p.Ile856Phe
XM_005266423.2:c.2803A>T	XP_005266480.1:p.Ile935Phe
XM_005266424.3:c.2803A>T	XP_005266481.1:p.Ile935Phe
XM_005266427.2:c.2665A>T	XP_005266484.1:p.Ile889Phe
XM_005266428.1:c.2647A>T	XP_005266485.1:p.Ile883Phe
XM_005266430.3:c.2899A>T	XP_005266487.1:p.Ile967Phe
XM_005266431.2:c.2863A>T	XP_005266488.1:p.Ile955Phe
XM_005266432.2:c.2413A>T	XP_005266489.1:p.Ile805Phe
XM_006719837.2:c.2803A>T	XP_006719900.1:p.Ile935Phe
XM_006719838.1:c.715A>T	XP_006719901.1:p.Ile239Phe
XM_006719839.1:c.715A>T	XP_006719902.1:p.Ile239Phe
XM_011535117.1:c.2803A>T	XP_011533419.1:p.Ile935Phe
XM_011535118.1:c.2764A>T	XP_011533420.1:p.Ile922Phe
XM_011535119.1:c.2899A>T	XP_011533421.1:p.Ile967Phe
XM_011535120.1:c.2485A>T	XP_011533422.1:p.Ile829Phe
XM_011535121.1:c.2730+3562A>T	XP_011533423.1:n.2730+3562A>T
XM_011535122.1:c.1567A>T	XP_011533424.1:p.Ile523Phe
XR_941601.1:n.3118A>T
XR_941602.1:n.3118A>T
XR_941603.1:n.3118A>T
XR_941604.1:n.3118A>T
NM_001330578.1:c.2665A>T	NP_001317507.1:p.Ile889Phe
NM_001330579.1:c.2647A>T	NP_001317508.1:p.Ile883Phe
XM_005266424.4:c.2803A>T	XP_005266481.1:p.Ile935Phe
XM_005266430.4:c.2899A>T	XP_005266487.1:p.Ile967Phe
XM_005266431.4:c.2863A>T	XP_005266488.1:p.Ile955Phe
XM_006719837.3:c.2803A>T	XP_006719900.1:p.Ile935Phe
XM_011535117.3:c.2803A>T	XP_011533419.1:p.Ile935Phe
XM_017020627.1:c.2803A>T	XP_016876116.1:p.Ile935Phe
NM_000053.4:c.2899A>T MANE Select	NP_000044.2:p.Ile967Phe
NM_001005918.3:c.2278A>T	NP_001005918.1:p.Ile760Phe
NM_001330579.2:c.2647A>T	NP_001317508.1:p.Ile883Phe
NM_001243182.2:c.2566A>T	NP_001230111.1:p.Ile856Phe
NM_001330578.2:c.2665A>T	NP_001317507.1:p.Ile889Phe