Canonical Allele Identifier: CA388021163

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1585A>C	ENSP00000489512.2:n.*1585A>C
ENST00000673864.2:c.*2679A>C	ENSP00000501045.2:n.*2679A>C
ENST00000674147.2:c.3314A>C	ENSP00000500964.2:p.His1105Pro
ENST00000242839.10:c.3935A>C MANE Select	ENSP00000242839.5:p.His1312Pro
ENST00000344297.9:c.3314A>C	ENSP00000342559.5:p.His1105Pro
ENST00000400366.6:c.3602A>C	ENSP00000383217.3:p.His1201Pro
ENST00000448424.7:c.3683A>C	ENSP00000416738.3:p.His1228Pro
ENST00000673696.1:n.1258A>C
ENST00000673772.1:c.3701A>C	ENSP00000501168.1:p.His1234Pro
ENST00000673867.1:n.4074A>C
ENST00000673923.1:n.801A>C
ENST00000674147.1:c.2870A>C	ENSP00000500964.1:p.His957Pro
ENST00000242839.8:c.3935A>C	ENSP00000242839.4:p.His1312Pro
ENST00000344297.8:c.3314A>C	ENSP00000342559.5:p.His1105Pro
ENST00000400366.5:c.3602A>C	ENSP00000383217.3:p.His1201Pro
ENST00000400370.8:c.2645A>C	ENSP00000383221.3:p.His882Pro
ENST00000418097.7:c.3740A>C	ENSP00000393343.2:p.His1247Pro
ENST00000448424.6:c.3701A>C	ENSP00000416738.2:p.His1234Pro
ENST00000634296.1:c.1713A>C
ENST00000634308.1:c.*1036A>C	ENSP00000489234.1:n.*1036A>C
ENST00000634620.1:n.4679A>C
ENST00000634810.1:n.3280A>C
ENST00000634844.1:c.3791A>C	ENSP00000489398.1:p.His1264Pro
NM_000053.3:c.3935A>C	NP_000044.2:p.His1312Pro
NM_001005918.2:c.3314A>C	NP_001005918.1:p.His1105Pro
NM_001243182.1:c.3602A>C	NP_001230111.1:p.His1201Pro
XM_005266423.2:c.3839A>C	XP_005266480.1:p.His1280Pro
XM_005266424.3:c.3839A>C	XP_005266481.1:p.His1280Pro
XM_005266427.2:c.3701A>C	XP_005266484.1:p.His1234Pro
XM_005266428.1:c.3683A>C	XP_005266485.1:p.His1228Pro
XM_005266430.3:c.3935A>C	XP_005266487.1:p.His1312Pro
XM_005266431.2:c.3899A>C	XP_005266488.1:p.His1300Pro
XM_005266432.2:c.3449A>C	XP_005266489.1:p.His1150Pro
XM_006719837.2:c.3839A>C	XP_006719900.1:p.His1280Pro
XM_006719838.1:c.1751A>C	XP_006719901.1:p.His584Pro
XM_006719839.1:c.1568A>C	XP_006719902.1:p.His523Pro
XM_011535117.1:c.3839A>C	XP_011533419.1:p.His1280Pro
XM_011535118.1:c.3800A>C	XP_011533420.1:p.His1267Pro
XM_011535119.1:c.3752A>C	XP_011533421.1:p.His1251Pro
XM_011535120.1:c.3521A>C	XP_011533422.1:p.His1174Pro
XM_011535121.1:c.3422A>C	XP_011533423.1:p.His1141Pro
XM_011535122.1:c.2603A>C	XP_011533424.1:p.His868Pro
XR_941601.1:n.4154A>C
XR_941602.1:n.4154A>C
XR_941603.1:n.4154A>C
XR_941604.1:n.4154A>C
NM_001330578.1:c.3701A>C	NP_001317507.1:p.His1234Pro
NM_001330579.1:c.3683A>C	NP_001317508.1:p.His1228Pro
XM_005266424.4:c.3839A>C	XP_005266481.1:p.His1280Pro
XM_005266430.4:c.3935A>C	XP_005266487.1:p.His1312Pro
XM_005266431.4:c.3899A>C	XP_005266488.1:p.His1300Pro
XM_006719837.3:c.3839A>C	XP_006719900.1:p.His1280Pro
XM_011535117.3:c.3839A>C	XP_011533419.1:p.His1280Pro
XM_017020627.1:c.3839A>C	XP_016876116.1:p.His1280Pro
NM_000053.4:c.3935A>C MANE Select	NP_000044.2:p.His1312Pro
NM_001005918.3:c.3314A>C	NP_001005918.1:p.His1105Pro
NM_001330579.2:c.3683A>C	NP_001317508.1:p.His1228Pro
NM_001243182.2:c.3602A>C	NP_001230111.1:p.His1201Pro
NM_001330578.2:c.3701A>C	NP_001317507.1:p.His1234Pro