Canonical Allele Identifier: CA388024116

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513256C>A (hg19) ; chr13:g.51939120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939120C>A , CM000675.2:g.51939120C>A	GRCh38
NC_000013.10:g.52513256C>A , CM000675.1:g.52513256C>A	GRCh37
NC_000013.9:g.51411257C>A	NCBI36
NG_008806.1:g.77375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1280G>T	ENSP00000489512.2:n.*1280G>T
ENST00000673864.2:c.*2374G>T	ENSP00000501045.2:n.*2374G>T
ENST00000674147.2:c.3009G>T	ENSP00000500964.2:p.Gln1003His
ENST00000242839.10:c.3630G>T MANE Select	ENSP00000242839.5:p.Gln1210His
ENST00000344297.9:c.3009G>T	ENSP00000342559.5:p.Gln1003His
ENST00000400366.6:c.3297G>T	ENSP00000383217.3:p.Gln1099His
ENST00000448424.7:c.3378G>T	ENSP00000416738.3:p.Gln1126His
ENST00000673696.1:n.871G>T
ENST00000673772.1:c.3396G>T	ENSP00000501168.1:p.Gln1132His
ENST00000673867.1:n.3769G>T
ENST00000673923.1:n.496G>T
ENST00000674147.1:c.2565G>T	ENSP00000500964.1:p.Gln855His
ENST00000242839.8:c.3630G>T	ENSP00000242839.4:p.Gln1210His
ENST00000344297.8:c.3009G>T	ENSP00000342559.5:p.Gln1003His
ENST00000400366.5:c.3297G>T	ENSP00000383217.3:p.Gln1099His
ENST00000400370.8:c.2340G>T	ENSP00000383221.3:p.Gln780His
ENST00000418097.7:c.3435G>T	ENSP00000393343.2:p.Gln1145His
ENST00000448424.6:c.3396G>T	ENSP00000416738.2:p.Gln1132His
ENST00000634296.1:c.1408G>T
ENST00000634308.1:c.*731G>T	ENSP00000489234.1:n.*731G>T
ENST00000634620.1:n.4374G>T
ENST00000634810.1:n.2975G>T
ENST00000634844.1:c.3486G>T	ENSP00000489398.1:p.Gln1162His
NM_000053.3:c.3630G>T	NP_000044.2:p.Gln1210His
NM_001005918.2:c.3009G>T	NP_001005918.1:p.Gln1003His
NM_001243182.1:c.3297G>T	NP_001230111.1:p.Gln1099His
XM_005266423.2:c.3534G>T	XP_005266480.1:p.Gln1178His
XM_005266424.3:c.3534G>T	XP_005266481.1:p.Gln1178His
XM_005266427.2:c.3396G>T	XP_005266484.1:p.Gln1132His
XM_005266428.1:c.3378G>T	XP_005266485.1:p.Gln1126His
XM_005266430.3:c.3630G>T	XP_005266487.1:p.Gln1210His
XM_005266431.2:c.3594G>T	XP_005266488.1:p.Gln1198His
XM_005266432.2:c.3144G>T	XP_005266489.1:p.Gln1048His
XM_006719837.2:c.3534G>T	XP_006719900.1:p.Gln1178His
XM_006719838.1:c.1446G>T	XP_006719901.1:p.Gln482His
XM_006719839.1:c.1263G>T	XP_006719902.1:p.Gln421His
XM_011535117.1:c.3534G>T	XP_011533419.1:p.Gln1178His
XM_011535118.1:c.3495G>T	XP_011533420.1:p.Gln1165His
XM_011535119.1:c.3447G>T	XP_011533421.1:p.Gln1149His
XM_011535120.1:c.3216G>T	XP_011533422.1:p.Gln1072His
XM_011535121.1:c.3117G>T	XP_011533423.1:p.Gln1039His
XM_011535122.1:c.2298G>T	XP_011533424.1:p.Gln766His
XR_941601.1:n.3849G>T
XR_941602.1:n.3849G>T
XR_941603.1:n.3849G>T
XR_941604.1:n.3849G>T
NM_001330578.1:c.3396G>T	NP_001317507.1:p.Gln1132His
NM_001330579.1:c.3378G>T	NP_001317508.1:p.Gln1126His
XM_005266424.4:c.3534G>T	XP_005266481.1:p.Gln1178His
XM_005266430.4:c.3630G>T	XP_005266487.1:p.Gln1210His
XM_005266431.4:c.3594G>T	XP_005266488.1:p.Gln1198His
XM_006719837.3:c.3534G>T	XP_006719900.1:p.Gln1178His
XM_011535117.3:c.3534G>T	XP_011533419.1:p.Gln1178His
XM_017020627.1:c.3534G>T	XP_016876116.1:p.Gln1178His
NM_000053.4:c.3630G>T MANE Select	NP_000044.2:p.Gln1210His
NM_001005918.3:c.3009G>T	NP_001005918.1:p.Gln1003His
NM_001330579.2:c.3378G>T	NP_001317508.1:p.Gln1126His
NM_001243182.2:c.3297G>T	NP_001230111.1:p.Gln1099His
NM_001330578.2:c.3396G>T	NP_001317507.1:p.Gln1132His