Canonical Allele Identifier: CA388021143

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511492G>T (hg19) ; chr13:g.51937356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937356G>T , CM000675.2:g.51937356G>T	GRCh38
NC_000013.10:g.52511492G>T , CM000675.1:g.52511492G>T	GRCh37
NC_000013.9:g.51409493G>T	NCBI36
NG_008806.1:g.79139C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1591C>A	ENSP00000489512.2:n.*1591C>A
ENST00000673864.2:c.*2685C>A	ENSP00000501045.2:n.*2685C>A
ENST00000674147.2:c.3320C>A	ENSP00000500964.2:p.Ser1107Tyr
ENST00000242839.10:c.3941C>A MANE Select	ENSP00000242839.5:p.Ser1314Tyr
ENST00000344297.9:c.3320C>A	ENSP00000342559.5:p.Ser1107Tyr
ENST00000400366.6:c.3608C>A	ENSP00000383217.3:p.Ser1203Tyr
ENST00000448424.7:c.3689C>A	ENSP00000416738.3:p.Ser1230Tyr
ENST00000673696.1:n.1264C>A
ENST00000673772.1:c.3707C>A	ENSP00000501168.1:p.Ser1236Tyr
ENST00000673867.1:n.4080C>A
ENST00000673923.1:n.807C>A
ENST00000674147.1:c.2876C>A	ENSP00000500964.1:p.Ser959Tyr
ENST00000242839.8:c.3941C>A	ENSP00000242839.4:p.Ser1314Tyr
ENST00000344297.8:c.3320C>A	ENSP00000342559.5:p.Ser1107Tyr
ENST00000400366.5:c.3608C>A	ENSP00000383217.3:p.Ser1203Tyr
ENST00000400370.8:c.2651C>A	ENSP00000383221.3:p.Ser884Tyr
ENST00000418097.7:c.3746C>A	ENSP00000393343.2:p.Ser1249Tyr
ENST00000448424.6:c.3707C>A	ENSP00000416738.2:p.Ser1236Tyr
ENST00000634296.1:c.1719C>A
ENST00000634308.1:c.*1042C>A	ENSP00000489234.1:n.*1042C>A
ENST00000634620.1:n.4685C>A
ENST00000634810.1:n.3286C>A
ENST00000634844.1:c.3797C>A	ENSP00000489398.1:p.Ser1266Tyr
NM_000053.3:c.3941C>A	NP_000044.2:p.Ser1314Tyr
NM_001005918.2:c.3320C>A	NP_001005918.1:p.Ser1107Tyr
NM_001243182.1:c.3608C>A	NP_001230111.1:p.Ser1203Tyr
XM_005266423.2:c.3845C>A	XP_005266480.1:p.Ser1282Tyr
XM_005266424.3:c.3845C>A	XP_005266481.1:p.Ser1282Tyr
XM_005266427.2:c.3707C>A	XP_005266484.1:p.Ser1236Tyr
XM_005266428.1:c.3689C>A	XP_005266485.1:p.Ser1230Tyr
XM_005266430.3:c.3941C>A	XP_005266487.1:p.Ser1314Tyr
XM_005266431.2:c.3905C>A	XP_005266488.1:p.Ser1302Tyr
XM_005266432.2:c.3455C>A	XP_005266489.1:p.Ser1152Tyr
XM_006719837.2:c.3845C>A	XP_006719900.1:p.Ser1282Tyr
XM_006719838.1:c.1757C>A	XP_006719901.1:p.Ser586Tyr
XM_006719839.1:c.1574C>A	XP_006719902.1:p.Ser525Tyr
XM_011535117.1:c.3845C>A	XP_011533419.1:p.Ser1282Tyr
XM_011535118.1:c.3806C>A	XP_011533420.1:p.Ser1269Tyr
XM_011535119.1:c.3758C>A	XP_011533421.1:p.Ser1253Tyr
XM_011535120.1:c.3527C>A	XP_011533422.1:p.Ser1176Tyr
XM_011535121.1:c.3428C>A	XP_011533423.1:p.Ser1143Tyr
XM_011535122.1:c.2609C>A	XP_011533424.1:p.Ser870Tyr
XR_941601.1:n.4160C>A
XR_941602.1:n.4160C>A
XR_941603.1:n.4160C>A
XR_941604.1:n.4160C>A
NM_001330578.1:c.3707C>A	NP_001317507.1:p.Ser1236Tyr
NM_001330579.1:c.3689C>A	NP_001317508.1:p.Ser1230Tyr
XM_005266424.4:c.3845C>A	XP_005266481.1:p.Ser1282Tyr
XM_005266430.4:c.3941C>A	XP_005266487.1:p.Ser1314Tyr
XM_005266431.4:c.3905C>A	XP_005266488.1:p.Ser1302Tyr
XM_006719837.3:c.3845C>A	XP_006719900.1:p.Ser1282Tyr
XM_011535117.3:c.3845C>A	XP_011533419.1:p.Ser1282Tyr
XM_017020627.1:c.3845C>A	XP_016876116.1:p.Ser1282Tyr
NM_000053.4:c.3941C>A MANE Select	NP_000044.2:p.Ser1314Tyr
NM_001005918.3:c.3320C>A	NP_001005918.1:p.Ser1107Tyr
NM_001330579.2:c.3689C>A	NP_001317508.1:p.Ser1230Tyr
NM_001243182.2:c.3608C>A	NP_001230111.1:p.Ser1203Tyr
NM_001330578.2:c.3707C>A	NP_001317507.1:p.Ser1236Tyr