Canonical Allele Identifier: CA388021149

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511493A>T (hg19) ; chr13:g.51937357A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937357A>T , CM000675.2:g.51937357A>T	GRCh38
NC_000013.10:g.52511493A>T , CM000675.1:g.52511493A>T	GRCh37
NC_000013.9:g.51409494A>T	NCBI36
NG_008806.1:g.79138T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1590T>A	ENSP00000489512.2:n.*1590T>A
ENST00000673864.2:c.*2684T>A	ENSP00000501045.2:n.*2684T>A
ENST00000674147.2:c.3319T>A	ENSP00000500964.2:p.Ser1107Thr
ENST00000242839.10:c.3940T>A MANE Select	ENSP00000242839.5:p.Ser1314Thr
ENST00000344297.9:c.3319T>A	ENSP00000342559.5:p.Ser1107Thr
ENST00000400366.6:c.3607T>A	ENSP00000383217.3:p.Ser1203Thr
ENST00000448424.7:c.3688T>A	ENSP00000416738.3:p.Ser1230Thr
ENST00000673696.1:n.1263T>A
ENST00000673772.1:c.3706T>A	ENSP00000501168.1:p.Ser1236Thr
ENST00000673867.1:n.4079T>A
ENST00000673923.1:n.806T>A
ENST00000674147.1:c.2875T>A	ENSP00000500964.1:p.Ser959Thr
ENST00000242839.8:c.3940T>A	ENSP00000242839.4:p.Ser1314Thr
ENST00000344297.8:c.3319T>A	ENSP00000342559.5:p.Ser1107Thr
ENST00000400366.5:c.3607T>A	ENSP00000383217.3:p.Ser1203Thr
ENST00000400370.8:c.2650T>A	ENSP00000383221.3:p.Ser884Thr
ENST00000418097.7:c.3745T>A	ENSP00000393343.2:p.Ser1249Thr
ENST00000448424.6:c.3706T>A	ENSP00000416738.2:p.Ser1236Thr
ENST00000634296.1:c.1718T>A
ENST00000634308.1:c.*1041T>A	ENSP00000489234.1:n.*1041T>A
ENST00000634620.1:n.4684T>A
ENST00000634810.1:n.3285T>A
ENST00000634844.1:c.3796T>A	ENSP00000489398.1:p.Ser1266Thr
NM_000053.3:c.3940T>A	NP_000044.2:p.Ser1314Thr
NM_001005918.2:c.3319T>A	NP_001005918.1:p.Ser1107Thr
NM_001243182.1:c.3607T>A	NP_001230111.1:p.Ser1203Thr
XM_005266423.2:c.3844T>A	XP_005266480.1:p.Ser1282Thr
XM_005266424.3:c.3844T>A	XP_005266481.1:p.Ser1282Thr
XM_005266427.2:c.3706T>A	XP_005266484.1:p.Ser1236Thr
XM_005266428.1:c.3688T>A	XP_005266485.1:p.Ser1230Thr
XM_005266430.3:c.3940T>A	XP_005266487.1:p.Ser1314Thr
XM_005266431.2:c.3904T>A	XP_005266488.1:p.Ser1302Thr
XM_005266432.2:c.3454T>A	XP_005266489.1:p.Ser1152Thr
XM_006719837.2:c.3844T>A	XP_006719900.1:p.Ser1282Thr
XM_006719838.1:c.1756T>A	XP_006719901.1:p.Ser586Thr
XM_006719839.1:c.1573T>A	XP_006719902.1:p.Ser525Thr
XM_011535117.1:c.3844T>A	XP_011533419.1:p.Ser1282Thr
XM_011535118.1:c.3805T>A	XP_011533420.1:p.Ser1269Thr
XM_011535119.1:c.3757T>A	XP_011533421.1:p.Ser1253Thr
XM_011535120.1:c.3526T>A	XP_011533422.1:p.Ser1176Thr
XM_011535121.1:c.3427T>A	XP_011533423.1:p.Ser1143Thr
XM_011535122.1:c.2608T>A	XP_011533424.1:p.Ser870Thr
XR_941601.1:n.4159T>A
XR_941602.1:n.4159T>A
XR_941603.1:n.4159T>A
XR_941604.1:n.4159T>A
NM_001330578.1:c.3706T>A	NP_001317507.1:p.Ser1236Thr
NM_001330579.1:c.3688T>A	NP_001317508.1:p.Ser1230Thr
XM_005266424.4:c.3844T>A	XP_005266481.1:p.Ser1282Thr
XM_005266430.4:c.3940T>A	XP_005266487.1:p.Ser1314Thr
XM_005266431.4:c.3904T>A	XP_005266488.1:p.Ser1302Thr
XM_006719837.3:c.3844T>A	XP_006719900.1:p.Ser1282Thr
XM_011535117.3:c.3844T>A	XP_011533419.1:p.Ser1282Thr
XM_017020627.1:c.3844T>A	XP_016876116.1:p.Ser1282Thr
NM_000053.4:c.3940T>A MANE Select	NP_000044.2:p.Ser1314Thr
NM_001005918.3:c.3319T>A	NP_001005918.1:p.Ser1107Thr
NM_001330579.2:c.3688T>A	NP_001317508.1:p.Ser1230Thr
NM_001243182.2:c.3607T>A	NP_001230111.1:p.Ser1203Thr
NM_001330578.2:c.3706T>A	NP_001317507.1:p.Ser1236Thr