Canonical Allele Identifier: CA388028703

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516649C>A (hg19) ; chr13:g.51942513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942513C>A , CM000675.2:g.51942513C>A	GRCh38
NC_000013.10:g.52516649C>A , CM000675.1:g.52516649C>A	GRCh37
NC_000013.9:g.51414650C>A	NCBI36
NG_008806.1:g.73982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*935G>T	ENSP00000489512.2:n.*935G>T
ENST00000673864.2:c.*2029G>T	ENSP00000501045.2:n.*2029G>T
ENST00000674147.2:c.2664G>T	ENSP00000500964.2:p.Gln888His
ENST00000242839.10:c.3285G>T MANE Select	ENSP00000242839.5:p.Gln1095His
ENST00000344297.9:c.2664G>T	ENSP00000342559.5:p.Gln888His
ENST00000400366.6:c.2952G>T	ENSP00000383217.3:p.Gln984His
ENST00000448424.7:c.3033G>T	ENSP00000416738.3:p.Gln1011His
ENST00000673772.1:c.3051G>T	ENSP00000501168.1:p.Gln1017His
ENST00000673867.1:n.3424G>T
ENST00000674126.1:n.3648G>T
ENST00000674147.1:c.2220G>T	ENSP00000500964.1:p.Gln740His
ENST00000242839.8:c.3285G>T	ENSP00000242839.4:p.Gln1095His
ENST00000344297.8:c.2664G>T	ENSP00000342559.5:p.Gln888His
ENST00000400366.5:c.2952G>T	ENSP00000383217.3:p.Gln984His
ENST00000400370.8:c.1995G>T	ENSP00000383221.3:p.Gln665His
ENST00000418097.7:c.3090G>T	ENSP00000393343.2:p.Gln1030His
ENST00000448424.6:c.3051G>T	ENSP00000416738.2:p.Gln1017His
ENST00000634296.1:c.1063G>T
ENST00000634308.1:c.*386G>T	ENSP00000489234.1:n.*386G>T
ENST00000634620.1:n.4029G>T
ENST00000634810.1:n.2630G>T
ENST00000634844.1:c.3141G>T	ENSP00000489398.1:p.Gln1047His
NM_000053.3:c.3285G>T	NP_000044.2:p.Gln1095His
NM_001005918.2:c.2664G>T	NP_001005918.1:p.Gln888His
NM_001243182.1:c.2952G>T	NP_001230111.1:p.Gln984His
XM_005266423.2:c.3189G>T	XP_005266480.1:p.Gln1063His
XM_005266424.3:c.3189G>T	XP_005266481.1:p.Gln1063His
XM_005266427.2:c.3051G>T	XP_005266484.1:p.Gln1017His
XM_005266428.1:c.3033G>T	XP_005266485.1:p.Gln1011His
XM_005266430.3:c.3285G>T	XP_005266487.1:p.Gln1095His
XM_005266431.2:c.3249G>T	XP_005266488.1:p.Gln1083His
XM_005266432.2:c.2799G>T	XP_005266489.1:p.Gln933His
XM_006719837.2:c.3189G>T	XP_006719900.1:p.Gln1063His
XM_006719838.1:c.1101G>T	XP_006719901.1:p.Gln367His
XM_006719839.1:c.918G>T	XP_006719902.1:p.Gln306His
XM_011535117.1:c.3189G>T	XP_011533419.1:p.Gln1063His
XM_011535118.1:c.3150G>T	XP_011533420.1:p.Gln1050His
XM_011535119.1:c.3102G>T	XP_011533421.1:p.Gln1034His
XM_011535120.1:c.2871G>T	XP_011533422.1:p.Gln957His
XM_011535121.1:c.2772G>T	XP_011533423.1:p.Gln924His
XM_011535122.1:c.1953G>T	XP_011533424.1:p.Gln651His
XR_941601.1:n.3504G>T
XR_941602.1:n.3504G>T
XR_941603.1:n.3504G>T
XR_941604.1:n.3504G>T
NM_001330578.1:c.3051G>T	NP_001317507.1:p.Gln1017His
NM_001330579.1:c.3033G>T	NP_001317508.1:p.Gln1011His
XM_005266424.4:c.3189G>T	XP_005266481.1:p.Gln1063His
XM_005266430.4:c.3285G>T	XP_005266487.1:p.Gln1095His
XM_005266431.4:c.3249G>T	XP_005266488.1:p.Gln1083His
XM_006719837.3:c.3189G>T	XP_006719900.1:p.Gln1063His
XM_011535117.3:c.3189G>T	XP_011533419.1:p.Gln1063His
XM_017020627.1:c.3189G>T	XP_016876116.1:p.Gln1063His
NM_000053.4:c.3285G>T MANE Select	NP_000044.2:p.Gln1095His
NM_001005918.3:c.2664G>T	NP_001005918.1:p.Gln888His
NM_001330579.2:c.3033G>T	NP_001317508.1:p.Gln1011His
NM_001243182.2:c.2952G>T	NP_001230111.1:p.Gln984His
NM_001330578.2:c.3051G>T	NP_001317507.1:p.Gln1017His