Canonical Allele Identifier: CA388021053

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511471A>T (hg19) ; chr13:g.51937335A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937335A>T , CM000675.2:g.51937335A>T	GRCh38
NC_000013.10:g.52511471A>T , CM000675.1:g.52511471A>T	GRCh37
NC_000013.9:g.51409472A>T	NCBI36
NG_008806.1:g.79160T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1612T>A	ENSP00000489512.2:n.*1612T>A
ENST00000673864.2:c.*2706T>A	ENSP00000501045.2:n.*2706T>A
ENST00000674147.2:c.3341T>A	ENSP00000500964.2:p.Ile1114Lys
ENST00000242839.10:c.3962T>A MANE Select	ENSP00000242839.5:p.Ile1321Lys
ENST00000344297.9:c.3341T>A	ENSP00000342559.5:p.Ile1114Lys
ENST00000400366.6:c.3629T>A	ENSP00000383217.3:p.Ile1210Lys
ENST00000448424.7:c.3710T>A	ENSP00000416738.3:p.Ile1237Lys
ENST00000673696.1:n.1285T>A
ENST00000673772.1:c.3728T>A	ENSP00000501168.1:p.Ile1243Lys
ENST00000673867.1:n.4101T>A
ENST00000673923.1:n.828T>A
ENST00000674147.1:c.2897T>A	ENSP00000500964.1:p.Ile966Lys
ENST00000242839.8:c.3962T>A	ENSP00000242839.4:p.Ile1321Lys
ENST00000344297.8:c.3341T>A	ENSP00000342559.5:p.Ile1114Lys
ENST00000400366.5:c.3629T>A	ENSP00000383217.3:p.Ile1210Lys
ENST00000400370.8:c.2672T>A	ENSP00000383221.3:p.Ile891Lys
ENST00000418097.7:c.3767T>A	ENSP00000393343.2:p.Ile1256Lys
ENST00000448424.6:c.3728T>A	ENSP00000416738.2:p.Ile1243Lys
ENST00000634296.1:c.1740T>A
ENST00000634308.1:c.*1063T>A	ENSP00000489234.1:n.*1063T>A
ENST00000634620.1:n.4706T>A
ENST00000634810.1:n.3307T>A
ENST00000634844.1:c.3818T>A	ENSP00000489398.1:p.Ile1273Lys
NM_000053.3:c.3962T>A	NP_000044.2:p.Ile1321Lys
NM_001005918.2:c.3341T>A	NP_001005918.1:p.Ile1114Lys
NM_001243182.1:c.3629T>A	NP_001230111.1:p.Ile1210Lys
XM_005266423.2:c.3866T>A	XP_005266480.1:p.Ile1289Lys
XM_005266424.3:c.3866T>A	XP_005266481.1:p.Ile1289Lys
XM_005266427.2:c.3728T>A	XP_005266484.1:p.Ile1243Lys
XM_005266428.1:c.3710T>A	XP_005266485.1:p.Ile1237Lys
XM_005266430.3:c.3962T>A	XP_005266487.1:p.Ile1321Lys
XM_005266431.2:c.3926T>A	XP_005266488.1:p.Ile1309Lys
XM_005266432.2:c.3476T>A	XP_005266489.1:p.Ile1159Lys
XM_006719837.2:c.3866T>A	XP_006719900.1:p.Ile1289Lys
XM_006719838.1:c.1778T>A	XP_006719901.1:p.Ile593Lys
XM_006719839.1:c.1595T>A	XP_006719902.1:p.Ile532Lys
XM_011535117.1:c.3866T>A	XP_011533419.1:p.Ile1289Lys
XM_011535118.1:c.3827T>A	XP_011533420.1:p.Ile1276Lys
XM_011535119.1:c.3779T>A	XP_011533421.1:p.Ile1260Lys
XM_011535120.1:c.3548T>A	XP_011533422.1:p.Ile1183Lys
XM_011535121.1:c.3449T>A	XP_011533423.1:p.Ile1150Lys
XM_011535122.1:c.2630T>A	XP_011533424.1:p.Ile877Lys
XR_941601.1:n.4181T>A
XR_941602.1:n.4181T>A
XR_941603.1:n.4181T>A
XR_941604.1:n.4181T>A
NM_001330578.1:c.3728T>A	NP_001317507.1:p.Ile1243Lys
NM_001330579.1:c.3710T>A	NP_001317508.1:p.Ile1237Lys
XM_005266424.4:c.3866T>A	XP_005266481.1:p.Ile1289Lys
XM_005266430.4:c.3962T>A	XP_005266487.1:p.Ile1321Lys
XM_005266431.4:c.3926T>A	XP_005266488.1:p.Ile1309Lys
XM_006719837.3:c.3866T>A	XP_006719900.1:p.Ile1289Lys
XM_011535117.3:c.3866T>A	XP_011533419.1:p.Ile1289Lys
XM_017020627.1:c.3866T>A	XP_016876116.1:p.Ile1289Lys
NM_000053.4:c.3962T>A MANE Select	NP_000044.2:p.Ile1321Lys
NM_001005918.3:c.3341T>A	NP_001005918.1:p.Ile1114Lys
NM_001330579.2:c.3710T>A	NP_001317508.1:p.Ile1237Lys
NM_001243182.2:c.3629T>A	NP_001230111.1:p.Ile1210Lys
NM_001330578.2:c.3728T>A	NP_001317507.1:p.Ile1243Lys