Canonical Allele Identifier: CA388026401

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515285C>A (hg19) ; chr13:g.51941149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941149C>A , CM000675.2:g.51941149C>A	GRCh38
NC_000013.10:g.52515285C>A , CM000675.1:g.52515285C>A	GRCh37
NC_000013.9:g.51413286C>A	NCBI36
NG_008806.1:g.75346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1138G>T	ENSP00000489512.2:n.*1138G>T
ENST00000673864.2:c.*2232G>T	ENSP00000501045.2:n.*2232G>T
ENST00000674147.2:c.2867G>T	ENSP00000500964.2:p.Ser956Ile
ENST00000242839.10:c.3488G>T MANE Select	ENSP00000242839.5:p.Ser1163Ile
ENST00000344297.9:c.2867G>T	ENSP00000342559.5:p.Ser956Ile
ENST00000400366.6:c.3155G>T	ENSP00000383217.3:p.Ser1052Ile
ENST00000448424.7:c.3236G>T	ENSP00000416738.3:p.Ser1079Ile
ENST00000673772.1:c.3254G>T	ENSP00000501168.1:p.Ser1085Ile
ENST00000673867.1:n.3627G>T
ENST00000674126.1:n.3851G>T
ENST00000674147.1:c.2423G>T	ENSP00000500964.1:p.Ser808Ile
ENST00000242839.8:c.3488G>T	ENSP00000242839.4:p.Ser1163Ile
ENST00000344297.8:c.2867G>T	ENSP00000342559.5:p.Ser956Ile
ENST00000400366.5:c.3155G>T	ENSP00000383217.3:p.Ser1052Ile
ENST00000400370.8:c.2198G>T	ENSP00000383221.3:p.Ser733Ile
ENST00000418097.7:c.3293G>T	ENSP00000393343.2:p.Ser1098Ile
ENST00000448424.6:c.3254G>T	ENSP00000416738.2:p.Ser1085Ile
ENST00000634296.1:c.1266G>T
ENST00000634308.1:c.*589G>T	ENSP00000489234.1:n.*589G>T
ENST00000634620.1:n.4232G>T
ENST00000634810.1:n.2833G>T
ENST00000634844.1:c.3344G>T	ENSP00000489398.1:p.Ser1115Ile
NM_000053.3:c.3488G>T	NP_000044.2:p.Ser1163Ile
NM_001005918.2:c.2867G>T	NP_001005918.1:p.Ser956Ile
NM_001243182.1:c.3155G>T	NP_001230111.1:p.Ser1052Ile
XM_005266423.2:c.3392G>T	XP_005266480.1:p.Ser1131Ile
XM_005266424.3:c.3392G>T	XP_005266481.1:p.Ser1131Ile
XM_005266427.2:c.3254G>T	XP_005266484.1:p.Ser1085Ile
XM_005266428.1:c.3236G>T	XP_005266485.1:p.Ser1079Ile
XM_005266430.3:c.3488G>T	XP_005266487.1:p.Ser1163Ile
XM_005266431.2:c.3452G>T	XP_005266488.1:p.Ser1151Ile
XM_005266432.2:c.3002G>T	XP_005266489.1:p.Ser1001Ile
XM_006719837.2:c.3392G>T	XP_006719900.1:p.Ser1131Ile
XM_006719838.1:c.1304G>T	XP_006719901.1:p.Ser435Ile
XM_006719839.1:c.1121G>T	XP_006719902.1:p.Ser374Ile
XM_011535117.1:c.3392G>T	XP_011533419.1:p.Ser1131Ile
XM_011535118.1:c.3353G>T	XP_011533420.1:p.Ser1118Ile
XM_011535119.1:c.3305G>T	XP_011533421.1:p.Ser1102Ile
XM_011535120.1:c.3074G>T	XP_011533422.1:p.Ser1025Ile
XM_011535121.1:c.2975G>T	XP_011533423.1:p.Ser992Ile
XM_011535122.1:c.2156G>T	XP_011533424.1:p.Ser719Ile
XR_941601.1:n.3707G>T
XR_941602.1:n.3707G>T
XR_941603.1:n.3707G>T
XR_941604.1:n.3707G>T
NM_001330578.1:c.3254G>T	NP_001317507.1:p.Ser1085Ile
NM_001330579.1:c.3236G>T	NP_001317508.1:p.Ser1079Ile
XM_005266424.4:c.3392G>T	XP_005266481.1:p.Ser1131Ile
XM_005266430.4:c.3488G>T	XP_005266487.1:p.Ser1163Ile
XM_005266431.4:c.3452G>T	XP_005266488.1:p.Ser1151Ile
XM_006719837.3:c.3392G>T	XP_006719900.1:p.Ser1131Ile
XM_011535117.3:c.3392G>T	XP_011533419.1:p.Ser1131Ile
XM_017020627.1:c.3392G>T	XP_016876116.1:p.Ser1131Ile
NM_000053.4:c.3488G>T MANE Select	NP_000044.2:p.Ser1163Ile
NM_001005918.3:c.2867G>T	NP_001005918.1:p.Ser956Ile
NM_001330579.2:c.3236G>T	NP_001317508.1:p.Ser1079Ile
NM_001243182.2:c.3155G>T	NP_001230111.1:p.Ser1052Ile
NM_001330578.2:c.3254G>T	NP_001317507.1:p.Ser1085Ile