Canonical Allele Identifier: CA388032468

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520578T>G (hg19) ; chr13:g.51946442T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946442T>G , CM000675.2:g.51946442T>G	GRCh38
NC_000013.10:g.52520578T>G , CM000675.1:g.52520578T>G	GRCh37
NC_000013.9:g.51418579T>G	NCBI36
NG_008806.1:g.70053A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*735A>C	ENSP00000489512.2:n.*735A>C
ENST00000673864.2:c.*1646A>C	ENSP00000501045.2:n.*1646A>C
ENST00000674147.2:c.2281A>C	ENSP00000500964.2:p.Ile761Leu
ENST00000242839.10:c.2902A>C MANE Select	ENSP00000242839.5:p.Ile968Leu
ENST00000344297.9:c.2281A>C	ENSP00000342559.5:p.Ile761Leu
ENST00000400366.6:c.2569A>C	ENSP00000383217.3:p.Ile857Leu
ENST00000448424.7:c.2650A>C	ENSP00000416738.3:p.Ile884Leu
ENST00000673772.1:c.2668A>C	ENSP00000501168.1:p.Ile890Leu
ENST00000673867.1:n.1049A>C
ENST00000674126.1:n.3265A>C
ENST00000674147.1:c.1837A>C	ENSP00000500964.1:p.Ile613Leu
ENST00000242839.8:c.2902A>C	ENSP00000242839.4:p.Ile968Leu
ENST00000344297.8:c.2281A>C	ENSP00000342559.5:p.Ile761Leu
ENST00000400366.5:c.2569A>C	ENSP00000383217.3:p.Ile857Leu
ENST00000400370.8:c.1612A>C	ENSP00000383221.3:p.Ile538Leu
ENST00000418097.7:c.2866-2151A>C	ENSP00000393343.2:n.2866-2151A>C
ENST00000448424.6:c.2668A>C	ENSP00000416738.2:p.Ile890Leu
ENST00000466629.1:n.122A>C
ENST00000634296.1:c.863A>C
ENST00000634308.1:c.*3A>C	ENSP00000489234.1:n.*3A>C
ENST00000634620.1:n.3646A>C
ENST00000634810.1:n.2247A>C
ENST00000634844.1:c.2758A>C	ENSP00000489398.1:p.Ile920Leu
ENST00000635406.1:n.248A>C
NM_000053.3:c.2902A>C	NP_000044.2:p.Ile968Leu
NM_001005918.2:c.2281A>C	NP_001005918.1:p.Ile761Leu
NM_001243182.1:c.2569A>C	NP_001230111.1:p.Ile857Leu
XM_005266423.2:c.2806A>C	XP_005266480.1:p.Ile936Leu
XM_005266424.3:c.2806A>C	XP_005266481.1:p.Ile936Leu
XM_005266427.2:c.2668A>C	XP_005266484.1:p.Ile890Leu
XM_005266428.1:c.2650A>C	XP_005266485.1:p.Ile884Leu
XM_005266430.3:c.2902A>C	XP_005266487.1:p.Ile968Leu
XM_005266431.2:c.2866A>C	XP_005266488.1:p.Ile956Leu
XM_005266432.2:c.2416A>C	XP_005266489.1:p.Ile806Leu
XM_006719837.2:c.2806A>C	XP_006719900.1:p.Ile936Leu
XM_006719838.1:c.718A>C	XP_006719901.1:p.Ile240Leu
XM_006719839.1:c.718A>C	XP_006719902.1:p.Ile240Leu
XM_011535117.1:c.2806A>C	XP_011533419.1:p.Ile936Leu
XM_011535118.1:c.2767A>C	XP_011533420.1:p.Ile923Leu
XM_011535119.1:c.2902A>C	XP_011533421.1:p.Ile968Leu
XM_011535120.1:c.2488A>C	XP_011533422.1:p.Ile830Leu
XM_011535121.1:c.2730+3565A>C	XP_011533423.1:n.2730+3565A>C
XM_011535122.1:c.1570A>C	XP_011533424.1:p.Ile524Leu
XR_941601.1:n.3121A>C
XR_941602.1:n.3121A>C
XR_941603.1:n.3121A>C
XR_941604.1:n.3121A>C
NM_001330578.1:c.2668A>C	NP_001317507.1:p.Ile890Leu
NM_001330579.1:c.2650A>C	NP_001317508.1:p.Ile884Leu
XM_005266424.4:c.2806A>C	XP_005266481.1:p.Ile936Leu
XM_005266430.4:c.2902A>C	XP_005266487.1:p.Ile968Leu
XM_005266431.4:c.2866A>C	XP_005266488.1:p.Ile956Leu
XM_006719837.3:c.2806A>C	XP_006719900.1:p.Ile936Leu
XM_011535117.3:c.2806A>C	XP_011533419.1:p.Ile936Leu
XM_017020627.1:c.2806A>C	XP_016876116.1:p.Ile936Leu
NM_000053.4:c.2902A>C MANE Select	NP_000044.2:p.Ile968Leu
NM_001005918.3:c.2281A>C	NP_001005918.1:p.Ile761Leu
NM_001330579.2:c.2650A>C	NP_001317508.1:p.Ile884Leu
NM_001243182.2:c.2569A>C	NP_001230111.1:p.Ile857Leu
NM_001330578.2:c.2668A>C	NP_001317507.1:p.Ile890Leu