Canonical Allele Identifier: CA388020793

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511421T>A (hg19) ; chr13:g.51937285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937285T>A , CM000675.2:g.51937285T>A	GRCh38
NC_000013.10:g.52511421T>A , CM000675.1:g.52511421T>A	GRCh37
NC_000013.9:g.51409422T>A	NCBI36
NG_008806.1:g.79210A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1662A>T	ENSP00000489512.2:n.*1662A>T
ENST00000673864.2:c.*2756A>T	ENSP00000501045.2:n.*2756A>T
ENST00000674147.2:c.3391A>T	ENSP00000500964.2:p.Ile1131Phe
ENST00000242839.10:c.4012A>T MANE Select	ENSP00000242839.5:p.Ile1338Phe
ENST00000344297.9:c.3391A>T	ENSP00000342559.5:p.Ile1131Phe
ENST00000400366.6:c.3679A>T	ENSP00000383217.3:p.Ile1227Phe
ENST00000448424.7:c.3760A>T	ENSP00000416738.3:p.Ile1254Phe
ENST00000673696.1:n.1335A>T
ENST00000673772.1:c.3778A>T	ENSP00000501168.1:p.Ile1260Phe
ENST00000673867.1:n.4151A>T
ENST00000673923.1:n.878A>T
ENST00000674147.1:c.2947A>T	ENSP00000500964.1:p.Ile983Phe
ENST00000242839.8:c.4012A>T	ENSP00000242839.4:p.Ile1338Phe
ENST00000344297.8:c.3391A>T	ENSP00000342559.5:p.Ile1131Phe
ENST00000400366.5:c.3679A>T	ENSP00000383217.3:p.Ile1227Phe
ENST00000400370.8:c.2722A>T	ENSP00000383221.3:p.Ile908Phe
ENST00000418097.7:c.3817A>T	ENSP00000393343.2:p.Ile1273Phe
ENST00000448424.6:c.3778A>T	ENSP00000416738.2:p.Ile1260Phe
ENST00000634296.1:c.1790A>T
ENST00000634308.1:c.*1113A>T	ENSP00000489234.1:n.*1113A>T
ENST00000634620.1:n.4756A>T
ENST00000634810.1:n.3357A>T
ENST00000634844.1:c.3868A>T	ENSP00000489398.1:p.Ile1290Phe
NM_000053.3:c.4012A>T	NP_000044.2:p.Ile1338Phe
NM_001005918.2:c.3391A>T	NP_001005918.1:p.Ile1131Phe
NM_001243182.1:c.3679A>T	NP_001230111.1:p.Ile1227Phe
XM_005266423.2:c.3916A>T	XP_005266480.1:p.Ile1306Phe
XM_005266424.3:c.3916A>T	XP_005266481.1:p.Ile1306Phe
XM_005266427.2:c.3778A>T	XP_005266484.1:p.Ile1260Phe
XM_005266428.1:c.3760A>T	XP_005266485.1:p.Ile1254Phe
XM_005266430.3:c.4012A>T	XP_005266487.1:p.Ile1338Phe
XM_005266431.2:c.3976A>T	XP_005266488.1:p.Ile1326Phe
XM_005266432.2:c.3526A>T	XP_005266489.1:p.Ile1176Phe
XM_006719837.2:c.3916A>T	XP_006719900.1:p.Ile1306Phe
XM_006719838.1:c.1828A>T	XP_006719901.1:p.Ile610Phe
XM_006719839.1:c.1645A>T	XP_006719902.1:p.Ile549Phe
XM_011535117.1:c.3916A>T	XP_011533419.1:p.Ile1306Phe
XM_011535118.1:c.3877A>T	XP_011533420.1:p.Ile1293Phe
XM_011535119.1:c.3829A>T	XP_011533421.1:p.Ile1277Phe
XM_011535120.1:c.3598A>T	XP_011533422.1:p.Ile1200Phe
XM_011535121.1:c.3499A>T	XP_011533423.1:p.Ile1167Phe
XM_011535122.1:c.2680A>T	XP_011533424.1:p.Ile894Phe
XR_941601.1:n.4231A>T
XR_941602.1:n.4231A>T
XR_941603.1:n.4231A>T
XR_941604.1:n.4231A>T
NM_001330578.1:c.3778A>T	NP_001317507.1:p.Ile1260Phe
NM_001330579.1:c.3760A>T	NP_001317508.1:p.Ile1254Phe
XM_005266424.4:c.3916A>T	XP_005266481.1:p.Ile1306Phe
XM_005266430.4:c.4012A>T	XP_005266487.1:p.Ile1338Phe
XM_005266431.4:c.3976A>T	XP_005266488.1:p.Ile1326Phe
XM_006719837.3:c.3916A>T	XP_006719900.1:p.Ile1306Phe
XM_011535117.3:c.3916A>T	XP_011533419.1:p.Ile1306Phe
XM_017020627.1:c.3916A>T	XP_016876116.1:p.Ile1306Phe
NM_000053.4:c.4012A>T MANE Select	NP_000044.2:p.Ile1338Phe
NM_001005918.3:c.3391A>T	NP_001005918.1:p.Ile1131Phe
NM_001330579.2:c.3760A>T	NP_001317508.1:p.Ile1254Phe
NM_001243182.2:c.3679A>T	NP_001230111.1:p.Ile1227Phe
NM_001330578.2:c.3778A>T	NP_001317507.1:p.Ile1260Phe