Canonical Allele Identifier: CA388026507

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515304T>A (hg19) ; chr13:g.51941168T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941168T>A , CM000675.2:g.51941168T>A	GRCh38
NC_000013.10:g.52515304T>A , CM000675.1:g.52515304T>A	GRCh37
NC_000013.9:g.51413305T>A	NCBI36
NG_008806.1:g.75327A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1119A>T	ENSP00000489512.2:n.*1119A>T
ENST00000673864.2:c.*2213A>T	ENSP00000501045.2:n.*2213A>T
ENST00000674147.2:c.2848A>T	ENSP00000500964.2:p.Asn950Tyr
ENST00000242839.10:c.3469A>T MANE Select	ENSP00000242839.5:p.Asn1157Tyr
ENST00000344297.9:c.2848A>T	ENSP00000342559.5:p.Asn950Tyr
ENST00000400366.6:c.3136A>T	ENSP00000383217.3:p.Asn1046Tyr
ENST00000448424.7:c.3217A>T	ENSP00000416738.3:p.Asn1073Tyr
ENST00000673772.1:c.3235A>T	ENSP00000501168.1:p.Asn1079Tyr
ENST00000673867.1:n.3608A>T
ENST00000674126.1:n.3832A>T
ENST00000674147.1:c.2404A>T	ENSP00000500964.1:p.Asn802Tyr
ENST00000242839.8:c.3469A>T	ENSP00000242839.4:p.Asn1157Tyr
ENST00000344297.8:c.2848A>T	ENSP00000342559.5:p.Asn950Tyr
ENST00000400366.5:c.3136A>T	ENSP00000383217.3:p.Asn1046Tyr
ENST00000400370.8:c.2179A>T	ENSP00000383221.3:p.Asn727Tyr
ENST00000418097.7:c.3274A>T	ENSP00000393343.2:p.Asn1092Tyr
ENST00000448424.6:c.3235A>T	ENSP00000416738.2:p.Asn1079Tyr
ENST00000634296.1:c.1247A>T
ENST00000634308.1:c.*570A>T	ENSP00000489234.1:n.*570A>T
ENST00000634620.1:n.4213A>T
ENST00000634810.1:n.2814A>T
ENST00000634844.1:c.3325A>T	ENSP00000489398.1:p.Asn1109Tyr
NM_000053.3:c.3469A>T	NP_000044.2:p.Asn1157Tyr
NM_001005918.2:c.2848A>T	NP_001005918.1:p.Asn950Tyr
NM_001243182.1:c.3136A>T	NP_001230111.1:p.Asn1046Tyr
XM_005266423.2:c.3373A>T	XP_005266480.1:p.Asn1125Tyr
XM_005266424.3:c.3373A>T	XP_005266481.1:p.Asn1125Tyr
XM_005266427.2:c.3235A>T	XP_005266484.1:p.Asn1079Tyr
XM_005266428.1:c.3217A>T	XP_005266485.1:p.Asn1073Tyr
XM_005266430.3:c.3469A>T	XP_005266487.1:p.Asn1157Tyr
XM_005266431.2:c.3433A>T	XP_005266488.1:p.Asn1145Tyr
XM_005266432.2:c.2983A>T	XP_005266489.1:p.Asn995Tyr
XM_006719837.2:c.3373A>T	XP_006719900.1:p.Asn1125Tyr
XM_006719838.1:c.1285A>T	XP_006719901.1:p.Asn429Tyr
XM_006719839.1:c.1102A>T	XP_006719902.1:p.Asn368Tyr
XM_011535117.1:c.3373A>T	XP_011533419.1:p.Asn1125Tyr
XM_011535118.1:c.3334A>T	XP_011533420.1:p.Asn1112Tyr
XM_011535119.1:c.3286A>T	XP_011533421.1:p.Asn1096Tyr
XM_011535120.1:c.3055A>T	XP_011533422.1:p.Asn1019Tyr
XM_011535121.1:c.2956A>T	XP_011533423.1:p.Asn986Tyr
XM_011535122.1:c.2137A>T	XP_011533424.1:p.Asn713Tyr
XR_941601.1:n.3688A>T
XR_941602.1:n.3688A>T
XR_941603.1:n.3688A>T
XR_941604.1:n.3688A>T
NM_001330578.1:c.3235A>T	NP_001317507.1:p.Asn1079Tyr
NM_001330579.1:c.3217A>T	NP_001317508.1:p.Asn1073Tyr
XM_005266424.4:c.3373A>T	XP_005266481.1:p.Asn1125Tyr
XM_005266430.4:c.3469A>T	XP_005266487.1:p.Asn1157Tyr
XM_005266431.4:c.3433A>T	XP_005266488.1:p.Asn1145Tyr
XM_006719837.3:c.3373A>T	XP_006719900.1:p.Asn1125Tyr
XM_011535117.3:c.3373A>T	XP_011533419.1:p.Asn1125Tyr
XM_017020627.1:c.3373A>T	XP_016876116.1:p.Asn1125Tyr
NM_000053.4:c.3469A>T MANE Select	NP_000044.2:p.Asn1157Tyr
NM_001005918.3:c.2848A>T	NP_001005918.1:p.Asn950Tyr
NM_001330579.2:c.3217A>T	NP_001317508.1:p.Asn1073Tyr
NM_001243182.2:c.3136A>T	NP_001230111.1:p.Asn1046Tyr
NM_001330578.2:c.3235A>T	NP_001317507.1:p.Asn1079Tyr