Canonical Allele Identifier: CA388021167

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511498T>A (hg19) ; chr13:g.51937362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937362T>A , CM000675.2:g.51937362T>A	GRCh38
NC_000013.10:g.52511498T>A , CM000675.1:g.52511498T>A	GRCh37
NC_000013.9:g.51409499T>A	NCBI36
NG_008806.1:g.79133A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1585A>T	ENSP00000489512.2:n.*1585A>T
ENST00000673864.2:c.*2679A>T	ENSP00000501045.2:n.*2679A>T
ENST00000674147.2:c.3314A>T	ENSP00000500964.2:p.His1105Leu
ENST00000242839.10:c.3935A>T MANE Select	ENSP00000242839.5:p.His1312Leu
ENST00000344297.9:c.3314A>T	ENSP00000342559.5:p.His1105Leu
ENST00000400366.6:c.3602A>T	ENSP00000383217.3:p.His1201Leu
ENST00000448424.7:c.3683A>T	ENSP00000416738.3:p.His1228Leu
ENST00000673696.1:n.1258A>T
ENST00000673772.1:c.3701A>T	ENSP00000501168.1:p.His1234Leu
ENST00000673867.1:n.4074A>T
ENST00000673923.1:n.801A>T
ENST00000674147.1:c.2870A>T	ENSP00000500964.1:p.His957Leu
ENST00000242839.8:c.3935A>T	ENSP00000242839.4:p.His1312Leu
ENST00000344297.8:c.3314A>T	ENSP00000342559.5:p.His1105Leu
ENST00000400366.5:c.3602A>T	ENSP00000383217.3:p.His1201Leu
ENST00000400370.8:c.2645A>T	ENSP00000383221.3:p.His882Leu
ENST00000418097.7:c.3740A>T	ENSP00000393343.2:p.His1247Leu
ENST00000448424.6:c.3701A>T	ENSP00000416738.2:p.His1234Leu
ENST00000634296.1:c.1713A>T
ENST00000634308.1:c.*1036A>T	ENSP00000489234.1:n.*1036A>T
ENST00000634620.1:n.4679A>T
ENST00000634810.1:n.3280A>T
ENST00000634844.1:c.3791A>T	ENSP00000489398.1:p.His1264Leu
NM_000053.3:c.3935A>T	NP_000044.2:p.His1312Leu
NM_001005918.2:c.3314A>T	NP_001005918.1:p.His1105Leu
NM_001243182.1:c.3602A>T	NP_001230111.1:p.His1201Leu
XM_005266423.2:c.3839A>T	XP_005266480.1:p.His1280Leu
XM_005266424.3:c.3839A>T	XP_005266481.1:p.His1280Leu
XM_005266427.2:c.3701A>T	XP_005266484.1:p.His1234Leu
XM_005266428.1:c.3683A>T	XP_005266485.1:p.His1228Leu
XM_005266430.3:c.3935A>T	XP_005266487.1:p.His1312Leu
XM_005266431.2:c.3899A>T	XP_005266488.1:p.His1300Leu
XM_005266432.2:c.3449A>T	XP_005266489.1:p.His1150Leu
XM_006719837.2:c.3839A>T	XP_006719900.1:p.His1280Leu
XM_006719838.1:c.1751A>T	XP_006719901.1:p.His584Leu
XM_006719839.1:c.1568A>T	XP_006719902.1:p.His523Leu
XM_011535117.1:c.3839A>T	XP_011533419.1:p.His1280Leu
XM_011535118.1:c.3800A>T	XP_011533420.1:p.His1267Leu
XM_011535119.1:c.3752A>T	XP_011533421.1:p.His1251Leu
XM_011535120.1:c.3521A>T	XP_011533422.1:p.His1174Leu
XM_011535121.1:c.3422A>T	XP_011533423.1:p.His1141Leu
XM_011535122.1:c.2603A>T	XP_011533424.1:p.His868Leu
XR_941601.1:n.4154A>T
XR_941602.1:n.4154A>T
XR_941603.1:n.4154A>T
XR_941604.1:n.4154A>T
NM_001330578.1:c.3701A>T	NP_001317507.1:p.His1234Leu
NM_001330579.1:c.3683A>T	NP_001317508.1:p.His1228Leu
XM_005266424.4:c.3839A>T	XP_005266481.1:p.His1280Leu
XM_005266430.4:c.3935A>T	XP_005266487.1:p.His1312Leu
XM_005266431.4:c.3899A>T	XP_005266488.1:p.His1300Leu
XM_006719837.3:c.3839A>T	XP_006719900.1:p.His1280Leu
XM_011535117.3:c.3839A>T	XP_011533419.1:p.His1280Leu
XM_017020627.1:c.3839A>T	XP_016876116.1:p.His1280Leu
NM_000053.4:c.3935A>T MANE Select	NP_000044.2:p.His1312Leu
NM_001005918.3:c.3314A>T	NP_001005918.1:p.His1105Leu
NM_001330579.2:c.3683A>T	NP_001317508.1:p.His1228Leu
NM_001243182.2:c.3602A>T	NP_001230111.1:p.His1201Leu
NM_001330578.2:c.3701A>T	NP_001317507.1:p.His1234Leu