Canonical Allele Identifier: CA388021168

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511499G>A (hg19) ; chr13:g.51937363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937363G>A , CM000675.2:g.51937363G>A	GRCh38
NC_000013.10:g.52511499G>A , CM000675.1:g.52511499G>A	GRCh37
NC_000013.9:g.51409500G>A	NCBI36
NG_008806.1:g.79132C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1584C>T	ENSP00000489512.2:n.*1584C>T
ENST00000673864.2:c.*2678C>T	ENSP00000501045.2:n.*2678C>T
ENST00000674147.2:c.3313C>T	ENSP00000500964.2:p.His1105Tyr
ENST00000242839.10:c.3934C>T MANE Select	ENSP00000242839.5:p.His1312Tyr
ENST00000344297.9:c.3313C>T	ENSP00000342559.5:p.His1105Tyr
ENST00000400366.6:c.3601C>T	ENSP00000383217.3:p.His1201Tyr
ENST00000448424.7:c.3682C>T	ENSP00000416738.3:p.His1228Tyr
ENST00000673696.1:n.1257C>T
ENST00000673772.1:c.3700C>T	ENSP00000501168.1:p.His1234Tyr
ENST00000673867.1:n.4073C>T
ENST00000673923.1:n.800C>T
ENST00000674147.1:c.2869C>T	ENSP00000500964.1:p.His957Tyr
ENST00000242839.8:c.3934C>T	ENSP00000242839.4:p.His1312Tyr
ENST00000344297.8:c.3313C>T	ENSP00000342559.5:p.His1105Tyr
ENST00000400366.5:c.3601C>T	ENSP00000383217.3:p.His1201Tyr
ENST00000400370.8:c.2644C>T	ENSP00000383221.3:p.His882Tyr
ENST00000418097.7:c.3739C>T	ENSP00000393343.2:p.His1247Tyr
ENST00000448424.6:c.3700C>T	ENSP00000416738.2:p.His1234Tyr
ENST00000634296.1:c.1712C>T
ENST00000634308.1:c.*1035C>T	ENSP00000489234.1:n.*1035C>T
ENST00000634620.1:n.4678C>T
ENST00000634810.1:n.3279C>T
ENST00000634844.1:c.3790C>T	ENSP00000489398.1:p.His1264Tyr
NM_000053.3:c.3934C>T	NP_000044.2:p.His1312Tyr
NM_001005918.2:c.3313C>T	NP_001005918.1:p.His1105Tyr
NM_001243182.1:c.3601C>T	NP_001230111.1:p.His1201Tyr
XM_005266423.2:c.3838C>T	XP_005266480.1:p.His1280Tyr
XM_005266424.3:c.3838C>T	XP_005266481.1:p.His1280Tyr
XM_005266427.2:c.3700C>T	XP_005266484.1:p.His1234Tyr
XM_005266428.1:c.3682C>T	XP_005266485.1:p.His1228Tyr
XM_005266430.3:c.3934C>T	XP_005266487.1:p.His1312Tyr
XM_005266431.2:c.3898C>T	XP_005266488.1:p.His1300Tyr
XM_005266432.2:c.3448C>T	XP_005266489.1:p.His1150Tyr
XM_006719837.2:c.3838C>T	XP_006719900.1:p.His1280Tyr
XM_006719838.1:c.1750C>T	XP_006719901.1:p.His584Tyr
XM_006719839.1:c.1567C>T	XP_006719902.1:p.His523Tyr
XM_011535117.1:c.3838C>T	XP_011533419.1:p.His1280Tyr
XM_011535118.1:c.3799C>T	XP_011533420.1:p.His1267Tyr
XM_011535119.1:c.3751C>T	XP_011533421.1:p.His1251Tyr
XM_011535120.1:c.3520C>T	XP_011533422.1:p.His1174Tyr
XM_011535121.1:c.3421C>T	XP_011533423.1:p.His1141Tyr
XM_011535122.1:c.2602C>T	XP_011533424.1:p.His868Tyr
XR_941601.1:n.4153C>T
XR_941602.1:n.4153C>T
XR_941603.1:n.4153C>T
XR_941604.1:n.4153C>T
NM_001330578.1:c.3700C>T	NP_001317507.1:p.His1234Tyr
NM_001330579.1:c.3682C>T	NP_001317508.1:p.His1228Tyr
XM_005266424.4:c.3838C>T	XP_005266481.1:p.His1280Tyr
XM_005266430.4:c.3934C>T	XP_005266487.1:p.His1312Tyr
XM_005266431.4:c.3898C>T	XP_005266488.1:p.His1300Tyr
XM_006719837.3:c.3838C>T	XP_006719900.1:p.His1280Tyr
XM_011535117.3:c.3838C>T	XP_011533419.1:p.His1280Tyr
XM_017020627.1:c.3838C>T	XP_016876116.1:p.His1280Tyr
NM_000053.4:c.3934C>T MANE Select	NP_000044.2:p.His1312Tyr
NM_001005918.3:c.3313C>T	NP_001005918.1:p.His1105Tyr
NM_001330579.2:c.3682C>T	NP_001317508.1:p.His1228Tyr
NM_001243182.2:c.3601C>T	NP_001230111.1:p.His1201Tyr
NM_001330578.2:c.3700C>T	NP_001317507.1:p.His1234Tyr