Canonical Allele Identifier: CA388024354

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513287T>A (hg19) ; chr13:g.51939151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939151T>A , CM000675.2:g.51939151T>A	GRCh38
NC_000013.10:g.52513287T>A , CM000675.1:g.52513287T>A	GRCh37
NC_000013.9:g.51411288T>A	NCBI36
NG_008806.1:g.77344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1249A>T	ENSP00000489512.2:n.*1249A>T
ENST00000673864.2:c.*2343A>T	ENSP00000501045.2:n.*2343A>T
ENST00000674147.2:c.2978A>T	ENSP00000500964.2:p.Gln993Leu
ENST00000242839.10:c.3599A>T MANE Select	ENSP00000242839.5:p.Gln1200Leu
ENST00000344297.9:c.2978A>T	ENSP00000342559.5:p.Gln993Leu
ENST00000400366.6:c.3266A>T	ENSP00000383217.3:p.Gln1089Leu
ENST00000448424.7:c.3347A>T	ENSP00000416738.3:p.Gln1116Leu
ENST00000673696.1:n.840A>T
ENST00000673772.1:c.3365A>T	ENSP00000501168.1:p.Gln1122Leu
ENST00000673867.1:n.3738A>T
ENST00000673923.1:n.465A>T
ENST00000674147.1:c.2534A>T	ENSP00000500964.1:p.Gln845Leu
ENST00000242839.8:c.3599A>T	ENSP00000242839.4:p.Gln1200Leu
ENST00000344297.8:c.2978A>T	ENSP00000342559.5:p.Gln993Leu
ENST00000400366.5:c.3266A>T	ENSP00000383217.3:p.Gln1089Leu
ENST00000400370.8:c.2309A>T	ENSP00000383221.3:p.Gln770Leu
ENST00000418097.7:c.3404A>T	ENSP00000393343.2:p.Gln1135Leu
ENST00000448424.6:c.3365A>T	ENSP00000416738.2:p.Gln1122Leu
ENST00000634296.1:c.1377A>T
ENST00000634308.1:c.*700A>T	ENSP00000489234.1:n.*700A>T
ENST00000634620.1:n.4343A>T
ENST00000634810.1:n.2944A>T
ENST00000634844.1:c.3455A>T	ENSP00000489398.1:p.Gln1152Leu
NM_000053.3:c.3599A>T	NP_000044.2:p.Gln1200Leu
NM_001005918.2:c.2978A>T	NP_001005918.1:p.Gln993Leu
NM_001243182.1:c.3266A>T	NP_001230111.1:p.Gln1089Leu
XM_005266423.2:c.3503A>T	XP_005266480.1:p.Gln1168Leu
XM_005266424.3:c.3503A>T	XP_005266481.1:p.Gln1168Leu
XM_005266427.2:c.3365A>T	XP_005266484.1:p.Gln1122Leu
XM_005266428.1:c.3347A>T	XP_005266485.1:p.Gln1116Leu
XM_005266430.3:c.3599A>T	XP_005266487.1:p.Gln1200Leu
XM_005266431.2:c.3563A>T	XP_005266488.1:p.Gln1188Leu
XM_005266432.2:c.3113A>T	XP_005266489.1:p.Gln1038Leu
XM_006719837.2:c.3503A>T	XP_006719900.1:p.Gln1168Leu
XM_006719838.1:c.1415A>T	XP_006719901.1:p.Gln472Leu
XM_006719839.1:c.1232A>T	XP_006719902.1:p.Gln411Leu
XM_011535117.1:c.3503A>T	XP_011533419.1:p.Gln1168Leu
XM_011535118.1:c.3464A>T	XP_011533420.1:p.Gln1155Leu
XM_011535119.1:c.3416A>T	XP_011533421.1:p.Gln1139Leu
XM_011535120.1:c.3185A>T	XP_011533422.1:p.Gln1062Leu
XM_011535121.1:c.3086A>T	XP_011533423.1:p.Gln1029Leu
XM_011535122.1:c.2267A>T	XP_011533424.1:p.Gln756Leu
XR_941601.1:n.3818A>T
XR_941602.1:n.3818A>T
XR_941603.1:n.3818A>T
XR_941604.1:n.3818A>T
NM_001330578.1:c.3365A>T	NP_001317507.1:p.Gln1122Leu
NM_001330579.1:c.3347A>T	NP_001317508.1:p.Gln1116Leu
XM_005266424.4:c.3503A>T	XP_005266481.1:p.Gln1168Leu
XM_005266430.4:c.3599A>T	XP_005266487.1:p.Gln1200Leu
XM_005266431.4:c.3563A>T	XP_005266488.1:p.Gln1188Leu
XM_006719837.3:c.3503A>T	XP_006719900.1:p.Gln1168Leu
XM_011535117.3:c.3503A>T	XP_011533419.1:p.Gln1168Leu
XM_017020627.1:c.3503A>T	XP_016876116.1:p.Gln1168Leu
NM_000053.4:c.3599A>T MANE Select	NP_000044.2:p.Gln1200Leu
NM_001005918.3:c.2978A>T	NP_001005918.1:p.Gln993Leu
NM_001330579.2:c.3347A>T	NP_001317508.1:p.Gln1116Leu
NM_001243182.2:c.3266A>T	NP_001230111.1:p.Gln1089Leu
NM_001330578.2:c.3365A>T	NP_001317507.1:p.Gln1122Leu