Canonical Allele Identifier: CA388026018

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3073524
• ClinVar RCV Id: RCV004016530
• dbSNP Id: rs1957303561
• MyVariant Identifiers: chr13:g.52515240G>A (hg19) ; chr13:g.51941104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941104G>A , CM000675.2:g.51941104G>A	GRCh38
NC_000013.10:g.52515240G>A , CM000675.1:g.52515240G>A	GRCh37
NC_000013.9:g.51413241G>A	NCBI36
NG_008806.1:g.75391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1183C>T	ENSP00000489512.2:n.*1183C>T
ENST00000673864.2:c.*2277C>T	ENSP00000501045.2:n.*2277C>T
ENST00000674147.2:c.2912C>T	ENSP00000500964.2:p.Thr971Ile
ENST00000242839.10:c.3533C>T MANE Select	ENSP00000242839.5:p.Thr1178Ile
ENST00000344297.9:c.2912C>T	ENSP00000342559.5:p.Thr971Ile
ENST00000400366.6:c.3200C>T	ENSP00000383217.3:p.Thr1067Ile
ENST00000448424.7:c.3281C>T	ENSP00000416738.3:p.Thr1094Ile
ENST00000673772.1:c.3299C>T	ENSP00000501168.1:p.Thr1100Ile
ENST00000673867.1:n.3672C>T
ENST00000674126.1:n.3896C>T
ENST00000674147.1:c.2468C>T	ENSP00000500964.1:p.Thr823Ile
ENST00000242839.8:c.3533C>T	ENSP00000242839.4:p.Thr1178Ile
ENST00000344297.8:c.2912C>T	ENSP00000342559.5:p.Thr971Ile
ENST00000400366.5:c.3200C>T	ENSP00000383217.3:p.Thr1067Ile
ENST00000400370.8:c.2243C>T	ENSP00000383221.3:p.Thr748Ile
ENST00000418097.7:c.3338C>T	ENSP00000393343.2:p.Thr1113Ile
ENST00000448424.6:c.3299C>T	ENSP00000416738.2:p.Thr1100Ile
ENST00000634296.1:c.1311C>T
ENST00000634308.1:c.*634C>T	ENSP00000489234.1:n.*634C>T
ENST00000634620.1:n.4277C>T
ENST00000634810.1:n.2878C>T
ENST00000634844.1:c.3389C>T	ENSP00000489398.1:p.Thr1130Ile
NM_000053.3:c.3533C>T	NP_000044.2:p.Thr1178Ile
NM_001005918.2:c.2912C>T	NP_001005918.1:p.Thr971Ile
NM_001243182.1:c.3200C>T	NP_001230111.1:p.Thr1067Ile
XM_005266423.2:c.3437C>T	XP_005266480.1:p.Thr1146Ile
XM_005266424.3:c.3437C>T	XP_005266481.1:p.Thr1146Ile
XM_005266427.2:c.3299C>T	XP_005266484.1:p.Thr1100Ile
XM_005266428.1:c.3281C>T	XP_005266485.1:p.Thr1094Ile
XM_005266430.3:c.3533C>T	XP_005266487.1:p.Thr1178Ile
XM_005266431.2:c.3497C>T	XP_005266488.1:p.Thr1166Ile
XM_005266432.2:c.3047C>T	XP_005266489.1:p.Thr1016Ile
XM_006719837.2:c.3437C>T	XP_006719900.1:p.Thr1146Ile
XM_006719838.1:c.1349C>T	XP_006719901.1:p.Thr450Ile
XM_006719839.1:c.1166C>T	XP_006719902.1:p.Thr389Ile
XM_011535117.1:c.3437C>T	XP_011533419.1:p.Thr1146Ile
XM_011535118.1:c.3398C>T	XP_011533420.1:p.Thr1133Ile
XM_011535119.1:c.3350C>T	XP_011533421.1:p.Thr1117Ile
XM_011535120.1:c.3119C>T	XP_011533422.1:p.Thr1040Ile
XM_011535121.1:c.3020C>T	XP_011533423.1:p.Thr1007Ile
XM_011535122.1:c.2201C>T	XP_011533424.1:p.Thr734Ile
XR_941601.1:n.3752C>T
XR_941602.1:n.3752C>T
XR_941603.1:n.3752C>T
XR_941604.1:n.3752C>T
NM_001330578.1:c.3299C>T	NP_001317507.1:p.Thr1100Ile
NM_001330579.1:c.3281C>T	NP_001317508.1:p.Thr1094Ile
XM_005266424.4:c.3437C>T	XP_005266481.1:p.Thr1146Ile
XM_005266430.4:c.3533C>T	XP_005266487.1:p.Thr1178Ile
XM_005266431.4:c.3497C>T	XP_005266488.1:p.Thr1166Ile
XM_006719837.3:c.3437C>T	XP_006719900.1:p.Thr1146Ile
XM_011535117.3:c.3437C>T	XP_011533419.1:p.Thr1146Ile
XM_017020627.1:c.3437C>T	XP_016876116.1:p.Thr1146Ile
NM_000053.4:c.3533C>T MANE Select	NP_000044.2:p.Thr1178Ile
NM_001005918.3:c.2912C>T	NP_001005918.1:p.Thr971Ile
NM_001330579.2:c.3281C>T	NP_001317508.1:p.Thr1094Ile
NM_001243182.2:c.3200C>T	NP_001230111.1:p.Thr1067Ile
NM_001330578.2:c.3299C>T	NP_001317507.1:p.Thr1100Ile