Canonical Allele Identifier: CA388024563

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513302G>T (hg19) ; chr13:g.51939166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939166G>T , CM000675.2:g.51939166G>T	GRCh38
NC_000013.10:g.52513302G>T , CM000675.1:g.52513302G>T	GRCh37
NC_000013.9:g.51411303G>T	NCBI36
NG_008806.1:g.77329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1234C>A	ENSP00000489512.2:n.*1234C>A
ENST00000673864.2:c.*2328C>A	ENSP00000501045.2:n.*2328C>A
ENST00000674147.2:c.2963C>A	ENSP00000500964.2:p.Ala988Glu
ENST00000242839.10:c.3584C>A MANE Select	ENSP00000242839.5:p.Ala1195Glu
ENST00000344297.9:c.2963C>A	ENSP00000342559.5:p.Ala988Glu
ENST00000400366.6:c.3251C>A	ENSP00000383217.3:p.Ala1084Glu
ENST00000448424.7:c.3332C>A	ENSP00000416738.3:p.Ala1111Glu
ENST00000673696.1:n.825C>A
ENST00000673772.1:c.3350C>A	ENSP00000501168.1:p.Ala1117Glu
ENST00000673867.1:n.3723C>A
ENST00000673923.1:n.450C>A
ENST00000674147.1:c.2519C>A	ENSP00000500964.1:p.Ala840Glu
ENST00000242839.8:c.3584C>A	ENSP00000242839.4:p.Ala1195Glu
ENST00000344297.8:c.2963C>A	ENSP00000342559.5:p.Ala988Glu
ENST00000400366.5:c.3251C>A	ENSP00000383217.3:p.Ala1084Glu
ENST00000400370.8:c.2294C>A	ENSP00000383221.3:p.Ala765Glu
ENST00000418097.7:c.3389C>A	ENSP00000393343.2:p.Ala1130Glu
ENST00000448424.6:c.3350C>A	ENSP00000416738.2:p.Ala1117Glu
ENST00000634296.1:c.1362C>A
ENST00000634308.1:c.*685C>A	ENSP00000489234.1:n.*685C>A
ENST00000634620.1:n.4328C>A
ENST00000634810.1:n.2929C>A
ENST00000634844.1:c.3440C>A	ENSP00000489398.1:p.Ala1147Glu
NM_000053.3:c.3584C>A	NP_000044.2:p.Ala1195Glu
NM_001005918.2:c.2963C>A	NP_001005918.1:p.Ala988Glu
NM_001243182.1:c.3251C>A	NP_001230111.1:p.Ala1084Glu
XM_005266423.2:c.3488C>A	XP_005266480.1:p.Ala1163Glu
XM_005266424.3:c.3488C>A	XP_005266481.1:p.Ala1163Glu
XM_005266427.2:c.3350C>A	XP_005266484.1:p.Ala1117Glu
XM_005266428.1:c.3332C>A	XP_005266485.1:p.Ala1111Glu
XM_005266430.3:c.3584C>A	XP_005266487.1:p.Ala1195Glu
XM_005266431.2:c.3548C>A	XP_005266488.1:p.Ala1183Glu
XM_005266432.2:c.3098C>A	XP_005266489.1:p.Ala1033Glu
XM_006719837.2:c.3488C>A	XP_006719900.1:p.Ala1163Glu
XM_006719838.1:c.1400C>A	XP_006719901.1:p.Ala467Glu
XM_006719839.1:c.1217C>A	XP_006719902.1:p.Ala406Glu
XM_011535117.1:c.3488C>A	XP_011533419.1:p.Ala1163Glu
XM_011535118.1:c.3449C>A	XP_011533420.1:p.Ala1150Glu
XM_011535119.1:c.3401C>A	XP_011533421.1:p.Ala1134Glu
XM_011535120.1:c.3170C>A	XP_011533422.1:p.Ala1057Glu
XM_011535121.1:c.3071C>A	XP_011533423.1:p.Ala1024Glu
XM_011535122.1:c.2252C>A	XP_011533424.1:p.Ala751Glu
XR_941601.1:n.3803C>A
XR_941602.1:n.3803C>A
XR_941603.1:n.3803C>A
XR_941604.1:n.3803C>A
NM_001330578.1:c.3350C>A	NP_001317507.1:p.Ala1117Glu
NM_001330579.1:c.3332C>A	NP_001317508.1:p.Ala1111Glu
XM_005266424.4:c.3488C>A	XP_005266481.1:p.Ala1163Glu
XM_005266430.4:c.3584C>A	XP_005266487.1:p.Ala1195Glu
XM_005266431.4:c.3548C>A	XP_005266488.1:p.Ala1183Glu
XM_006719837.3:c.3488C>A	XP_006719900.1:p.Ala1163Glu
XM_011535117.3:c.3488C>A	XP_011533419.1:p.Ala1163Glu
XM_017020627.1:c.3488C>A	XP_016876116.1:p.Ala1163Glu
NM_000053.4:c.3584C>A MANE Select	NP_000044.2:p.Ala1195Glu
NM_001005918.3:c.2963C>A	NP_001005918.1:p.Ala988Glu
NM_001330579.2:c.3332C>A	NP_001317508.1:p.Ala1111Glu
NM_001243182.2:c.3251C>A	NP_001230111.1:p.Ala1084Glu
NM_001330578.2:c.3350C>A	NP_001317507.1:p.Ala1117Glu