Canonical Allele Identifier: CA388025992

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515234A>T (hg19) ; chr13:g.51941098A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941098A>T , CM000675.2:g.51941098A>T	GRCh38
NC_000013.10:g.52515234A>T , CM000675.1:g.52515234A>T	GRCh37
NC_000013.9:g.51413235A>T	NCBI36
NG_008806.1:g.75397T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1189T>A	ENSP00000489512.2:n.*1189T>A
ENST00000673864.2:c.*2283T>A	ENSP00000501045.2:n.*2283T>A
ENST00000674147.2:c.2918T>A	ENSP00000500964.2:p.Ile973Asn
ENST00000242839.10:c.3539T>A MANE Select	ENSP00000242839.5:p.Ile1180Asn
ENST00000344297.9:c.2918T>A	ENSP00000342559.5:p.Ile973Asn
ENST00000400366.6:c.3206T>A	ENSP00000383217.3:p.Ile1069Asn
ENST00000448424.7:c.3287T>A	ENSP00000416738.3:p.Ile1096Asn
ENST00000673772.1:c.3305T>A	ENSP00000501168.1:p.Ile1102Asn
ENST00000673867.1:n.3678T>A
ENST00000674126.1:n.3902T>A
ENST00000674147.1:c.2474T>A	ENSP00000500964.1:p.Ile825Asn
ENST00000242839.8:c.3539T>A	ENSP00000242839.4:p.Ile1180Asn
ENST00000344297.8:c.2918T>A	ENSP00000342559.5:p.Ile973Asn
ENST00000400366.5:c.3206T>A	ENSP00000383217.3:p.Ile1069Asn
ENST00000400370.8:c.2249T>A	ENSP00000383221.3:p.Ile750Asn
ENST00000418097.7:c.3344T>A	ENSP00000393343.2:p.Ile1115Asn
ENST00000448424.6:c.3305T>A	ENSP00000416738.2:p.Ile1102Asn
ENST00000634296.1:c.1317T>A
ENST00000634308.1:c.*640T>A	ENSP00000489234.1:n.*640T>A
ENST00000634620.1:n.4283T>A
ENST00000634810.1:n.2884T>A
ENST00000634844.1:c.3395T>A	ENSP00000489398.1:p.Ile1132Asn
NM_000053.3:c.3539T>A	NP_000044.2:p.Ile1180Asn
NM_001005918.2:c.2918T>A	NP_001005918.1:p.Ile973Asn
NM_001243182.1:c.3206T>A	NP_001230111.1:p.Ile1069Asn
XM_005266423.2:c.3443T>A	XP_005266480.1:p.Ile1148Asn
XM_005266424.3:c.3443T>A	XP_005266481.1:p.Ile1148Asn
XM_005266427.2:c.3305T>A	XP_005266484.1:p.Ile1102Asn
XM_005266428.1:c.3287T>A	XP_005266485.1:p.Ile1096Asn
XM_005266430.3:c.3539T>A	XP_005266487.1:p.Ile1180Asn
XM_005266431.2:c.3503T>A	XP_005266488.1:p.Ile1168Asn
XM_005266432.2:c.3053T>A	XP_005266489.1:p.Ile1018Asn
XM_006719837.2:c.3443T>A	XP_006719900.1:p.Ile1148Asn
XM_006719838.1:c.1355T>A	XP_006719901.1:p.Ile452Asn
XM_006719839.1:c.1172T>A	XP_006719902.1:p.Ile391Asn
XM_011535117.1:c.3443T>A	XP_011533419.1:p.Ile1148Asn
XM_011535118.1:c.3404T>A	XP_011533420.1:p.Ile1135Asn
XM_011535119.1:c.3356T>A	XP_011533421.1:p.Ile1119Asn
XM_011535120.1:c.3125T>A	XP_011533422.1:p.Ile1042Asn
XM_011535121.1:c.3026T>A	XP_011533423.1:p.Ile1009Asn
XM_011535122.1:c.2207T>A	XP_011533424.1:p.Ile736Asn
XR_941601.1:n.3758T>A
XR_941602.1:n.3758T>A
XR_941603.1:n.3758T>A
XR_941604.1:n.3758T>A
NM_001330578.1:c.3305T>A	NP_001317507.1:p.Ile1102Asn
NM_001330579.1:c.3287T>A	NP_001317508.1:p.Ile1096Asn
XM_005266424.4:c.3443T>A	XP_005266481.1:p.Ile1148Asn
XM_005266430.4:c.3539T>A	XP_005266487.1:p.Ile1180Asn
XM_005266431.4:c.3503T>A	XP_005266488.1:p.Ile1168Asn
XM_006719837.3:c.3443T>A	XP_006719900.1:p.Ile1148Asn
XM_011535117.3:c.3443T>A	XP_011533419.1:p.Ile1148Asn
XM_017020627.1:c.3443T>A	XP_016876116.1:p.Ile1148Asn
NM_000053.4:c.3539T>A MANE Select	NP_000044.2:p.Ile1180Asn
NM_001005918.3:c.2918T>A	NP_001005918.1:p.Ile973Asn
NM_001330579.2:c.3287T>A	NP_001317508.1:p.Ile1096Asn
NM_001243182.2:c.3206T>A	NP_001230111.1:p.Ile1069Asn
NM_001330578.2:c.3305T>A	NP_001317507.1:p.Ile1102Asn