Canonical Allele Identifier: CA388026173

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515257G>T (hg19) ; chr13:g.51941121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941121G>T , CM000675.2:g.51941121G>T	GRCh38
NC_000013.10:g.52515257G>T , CM000675.1:g.52515257G>T	GRCh37
NC_000013.9:g.51413258G>T	NCBI36
NG_008806.1:g.75374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1166C>A	ENSP00000489512.2:n.*1166C>A
ENST00000673864.2:c.*2260C>A	ENSP00000501045.2:n.*2260C>A
ENST00000674147.2:c.2895C>A	ENSP00000500964.2:p.His965Gln
ENST00000242839.10:c.3516C>A MANE Select	ENSP00000242839.5:p.His1172Gln
ENST00000344297.9:c.2895C>A	ENSP00000342559.5:p.His965Gln
ENST00000400366.6:c.3183C>A	ENSP00000383217.3:p.His1061Gln
ENST00000448424.7:c.3264C>A	ENSP00000416738.3:p.His1088Gln
ENST00000673772.1:c.3282C>A	ENSP00000501168.1:p.His1094Gln
ENST00000673867.1:n.3655C>A
ENST00000674126.1:n.3879C>A
ENST00000674147.1:c.2451C>A	ENSP00000500964.1:p.His817Gln
ENST00000242839.8:c.3516C>A	ENSP00000242839.4:p.His1172Gln
ENST00000344297.8:c.2895C>A	ENSP00000342559.5:p.His965Gln
ENST00000400366.5:c.3183C>A	ENSP00000383217.3:p.His1061Gln
ENST00000400370.8:c.2226C>A	ENSP00000383221.3:p.His742Gln
ENST00000418097.7:c.3321C>A	ENSP00000393343.2:p.His1107Gln
ENST00000448424.6:c.3282C>A	ENSP00000416738.2:p.His1094Gln
ENST00000634296.1:c.1294C>A
ENST00000634308.1:c.*617C>A	ENSP00000489234.1:n.*617C>A
ENST00000634620.1:n.4260C>A
ENST00000634810.1:n.2861C>A
ENST00000634844.1:c.3372C>A	ENSP00000489398.1:p.His1124Gln
NM_000053.3:c.3516C>A	NP_000044.2:p.His1172Gln
NM_001005918.2:c.2895C>A	NP_001005918.1:p.His965Gln
NM_001243182.1:c.3183C>A	NP_001230111.1:p.His1061Gln
XM_005266423.2:c.3420C>A	XP_005266480.1:p.His1140Gln
XM_005266424.3:c.3420C>A	XP_005266481.1:p.His1140Gln
XM_005266427.2:c.3282C>A	XP_005266484.1:p.His1094Gln
XM_005266428.1:c.3264C>A	XP_005266485.1:p.His1088Gln
XM_005266430.3:c.3516C>A	XP_005266487.1:p.His1172Gln
XM_005266431.2:c.3480C>A	XP_005266488.1:p.His1160Gln
XM_005266432.2:c.3030C>A	XP_005266489.1:p.His1010Gln
XM_006719837.2:c.3420C>A	XP_006719900.1:p.His1140Gln
XM_006719838.1:c.1332C>A	XP_006719901.1:p.His444Gln
XM_006719839.1:c.1149C>A	XP_006719902.1:p.His383Gln
XM_011535117.1:c.3420C>A	XP_011533419.1:p.His1140Gln
XM_011535118.1:c.3381C>A	XP_011533420.1:p.His1127Gln
XM_011535119.1:c.3333C>A	XP_011533421.1:p.His1111Gln
XM_011535120.1:c.3102C>A	XP_011533422.1:p.His1034Gln
XM_011535121.1:c.3003C>A	XP_011533423.1:p.His1001Gln
XM_011535122.1:c.2184C>A	XP_011533424.1:p.His728Gln
XR_941601.1:n.3735C>A
XR_941602.1:n.3735C>A
XR_941603.1:n.3735C>A
XR_941604.1:n.3735C>A
NM_001330578.1:c.3282C>A	NP_001317507.1:p.His1094Gln
NM_001330579.1:c.3264C>A	NP_001317508.1:p.His1088Gln
XM_005266424.4:c.3420C>A	XP_005266481.1:p.His1140Gln
XM_005266430.4:c.3516C>A	XP_005266487.1:p.His1172Gln
XM_005266431.4:c.3480C>A	XP_005266488.1:p.His1160Gln
XM_006719837.3:c.3420C>A	XP_006719900.1:p.His1140Gln
XM_011535117.3:c.3420C>A	XP_011533419.1:p.His1140Gln
XM_017020627.1:c.3420C>A	XP_016876116.1:p.His1140Gln
NM_000053.4:c.3516C>A MANE Select	NP_000044.2:p.His1172Gln
NM_001005918.3:c.2895C>A	NP_001005918.1:p.His965Gln
NM_001330579.2:c.3264C>A	NP_001317508.1:p.His1088Gln
NM_001243182.2:c.3183C>A	NP_001230111.1:p.His1061Gln
NM_001330578.2:c.3282C>A	NP_001317507.1:p.His1094Gln