Canonical Allele Identifier: CA388026146

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941119-T-C
• MyVariant Identifiers: chr13:g.52515255T>C (hg19) ; chr13:g.51941119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941119T>C , CM000675.2:g.51941119T>C	GRCh38
NC_000013.10:g.52515255T>C , CM000675.1:g.52515255T>C	GRCh37
NC_000013.9:g.51413256T>C	NCBI36
NG_008806.1:g.75376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1168A>G	ENSP00000489512.2:n.*1168A>G
ENST00000673864.2:c.*2262A>G	ENSP00000501045.2:n.*2262A>G
ENST00000674147.2:c.2897A>G	ENSP00000500964.2:p.Glu966Gly
ENST00000242839.10:c.3518A>G MANE Select	ENSP00000242839.5:p.Glu1173Gly
ENST00000344297.9:c.2897A>G	ENSP00000342559.5:p.Glu966Gly
ENST00000400366.6:c.3185A>G	ENSP00000383217.3:p.Glu1062Gly
ENST00000448424.7:c.3266A>G	ENSP00000416738.3:p.Glu1089Gly
ENST00000673772.1:c.3284A>G	ENSP00000501168.1:p.Glu1095Gly
ENST00000673867.1:n.3657A>G
ENST00000674126.1:n.3881A>G
ENST00000674147.1:c.2453A>G	ENSP00000500964.1:p.Glu818Gly
ENST00000242839.8:c.3518A>G	ENSP00000242839.4:p.Glu1173Gly
ENST00000344297.8:c.2897A>G	ENSP00000342559.5:p.Glu966Gly
ENST00000400366.5:c.3185A>G	ENSP00000383217.3:p.Glu1062Gly
ENST00000400370.8:c.2228A>G	ENSP00000383221.3:p.Glu743Gly
ENST00000418097.7:c.3323A>G	ENSP00000393343.2:p.Glu1108Gly
ENST00000448424.6:c.3284A>G	ENSP00000416738.2:p.Glu1095Gly
ENST00000634296.1:c.1296A>G
ENST00000634308.1:c.*619A>G	ENSP00000489234.1:n.*619A>G
ENST00000634620.1:n.4262A>G
ENST00000634810.1:n.2863A>G
ENST00000634844.1:c.3374A>G	ENSP00000489398.1:p.Glu1125Gly
NM_000053.3:c.3518A>G	NP_000044.2:p.Glu1173Gly
NM_001005918.2:c.2897A>G	NP_001005918.1:p.Glu966Gly
NM_001243182.1:c.3185A>G	NP_001230111.1:p.Glu1062Gly
XM_005266423.2:c.3422A>G	XP_005266480.1:p.Glu1141Gly
XM_005266424.3:c.3422A>G	XP_005266481.1:p.Glu1141Gly
XM_005266427.2:c.3284A>G	XP_005266484.1:p.Glu1095Gly
XM_005266428.1:c.3266A>G	XP_005266485.1:p.Glu1089Gly
XM_005266430.3:c.3518A>G	XP_005266487.1:p.Glu1173Gly
XM_005266431.2:c.3482A>G	XP_005266488.1:p.Glu1161Gly
XM_005266432.2:c.3032A>G	XP_005266489.1:p.Glu1011Gly
XM_006719837.2:c.3422A>G	XP_006719900.1:p.Glu1141Gly
XM_006719838.1:c.1334A>G	XP_006719901.1:p.Glu445Gly
XM_006719839.1:c.1151A>G	XP_006719902.1:p.Glu384Gly
XM_011535117.1:c.3422A>G	XP_011533419.1:p.Glu1141Gly
XM_011535118.1:c.3383A>G	XP_011533420.1:p.Glu1128Gly
XM_011535119.1:c.3335A>G	XP_011533421.1:p.Glu1112Gly
XM_011535120.1:c.3104A>G	XP_011533422.1:p.Glu1035Gly
XM_011535121.1:c.3005A>G	XP_011533423.1:p.Glu1002Gly
XM_011535122.1:c.2186A>G	XP_011533424.1:p.Glu729Gly
XR_941601.1:n.3737A>G
XR_941602.1:n.3737A>G
XR_941603.1:n.3737A>G
XR_941604.1:n.3737A>G
NM_001330578.1:c.3284A>G	NP_001317507.1:p.Glu1095Gly
NM_001330579.1:c.3266A>G	NP_001317508.1:p.Glu1089Gly
XM_005266424.4:c.3422A>G	XP_005266481.1:p.Glu1141Gly
XM_005266430.4:c.3518A>G	XP_005266487.1:p.Glu1173Gly
XM_005266431.4:c.3482A>G	XP_005266488.1:p.Glu1161Gly
XM_006719837.3:c.3422A>G	XP_006719900.1:p.Glu1141Gly
XM_011535117.3:c.3422A>G	XP_011533419.1:p.Glu1141Gly
XM_017020627.1:c.3422A>G	XP_016876116.1:p.Glu1141Gly
NM_000053.4:c.3518A>G MANE Select	NP_000044.2:p.Glu1173Gly
NM_001005918.3:c.2897A>G	NP_001005918.1:p.Glu966Gly
NM_001330579.2:c.3266A>G	NP_001317508.1:p.Glu1089Gly
NM_001243182.2:c.3185A>G	NP_001230111.1:p.Glu1062Gly
NM_001330578.2:c.3284A>G	NP_001317507.1:p.Glu1095Gly