Canonical Allele Identifier: CA388023525

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513188T>A (hg19) ; chr13:g.51939052T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939052T>A , CM000675.2:g.51939052T>A	GRCh38
NC_000013.10:g.52513188T>A , CM000675.1:g.52513188T>A	GRCh37
NC_000013.9:g.51411189T>A	NCBI36
NG_008806.1:g.77443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1348A>T	ENSP00000489512.2:n.*1348A>T
ENST00000673864.2:c.*2442A>T	ENSP00000501045.2:n.*2442A>T
ENST00000674147.2:c.3077A>T	ENSP00000500964.2:p.Gln1026Leu
ENST00000242839.10:c.3698A>T MANE Select	ENSP00000242839.5:p.Gln1233Leu
ENST00000344297.9:c.3077A>T	ENSP00000342559.5:p.Gln1026Leu
ENST00000400366.6:c.3365A>T	ENSP00000383217.3:p.Gln1122Leu
ENST00000448424.7:c.3446A>T	ENSP00000416738.3:p.Gln1149Leu
ENST00000673696.1:n.939A>T
ENST00000673772.1:c.3464A>T	ENSP00000501168.1:p.Gln1155Leu
ENST00000673867.1:n.3837A>T
ENST00000673923.1:n.564A>T
ENST00000674147.1:c.2633A>T	ENSP00000500964.1:p.Gln878Leu
ENST00000242839.8:c.3698A>T	ENSP00000242839.4:p.Gln1233Leu
ENST00000344297.8:c.3077A>T	ENSP00000342559.5:p.Gln1026Leu
ENST00000400366.5:c.3365A>T	ENSP00000383217.3:p.Gln1122Leu
ENST00000400370.8:c.2408A>T	ENSP00000383221.3:p.Gln803Leu
ENST00000418097.7:c.3503A>T	ENSP00000393343.2:p.Gln1168Leu
ENST00000448424.6:c.3464A>T	ENSP00000416738.2:p.Gln1155Leu
ENST00000634296.1:c.1476A>T
ENST00000634308.1:c.*799A>T	ENSP00000489234.1:n.*799A>T
ENST00000634620.1:n.4442A>T
ENST00000634810.1:n.3043A>T
ENST00000634844.1:c.3554A>T	ENSP00000489398.1:p.Gln1185Leu
NM_000053.3:c.3698A>T	NP_000044.2:p.Gln1233Leu
NM_001005918.2:c.3077A>T	NP_001005918.1:p.Gln1026Leu
NM_001243182.1:c.3365A>T	NP_001230111.1:p.Gln1122Leu
XM_005266423.2:c.3602A>T	XP_005266480.1:p.Gln1201Leu
XM_005266424.3:c.3602A>T	XP_005266481.1:p.Gln1201Leu
XM_005266427.2:c.3464A>T	XP_005266484.1:p.Gln1155Leu
XM_005266428.1:c.3446A>T	XP_005266485.1:p.Gln1149Leu
XM_005266430.3:c.3698A>T	XP_005266487.1:p.Gln1233Leu
XM_005266431.2:c.3662A>T	XP_005266488.1:p.Gln1221Leu
XM_005266432.2:c.3212A>T	XP_005266489.1:p.Gln1071Leu
XM_006719837.2:c.3602A>T	XP_006719900.1:p.Gln1201Leu
XM_006719838.1:c.1514A>T	XP_006719901.1:p.Gln505Leu
XM_006719839.1:c.1331A>T	XP_006719902.1:p.Gln444Leu
XM_011535117.1:c.3602A>T	XP_011533419.1:p.Gln1201Leu
XM_011535118.1:c.3563A>T	XP_011533420.1:p.Gln1188Leu
XM_011535119.1:c.3515A>T	XP_011533421.1:p.Gln1172Leu
XM_011535120.1:c.3284A>T	XP_011533422.1:p.Gln1095Leu
XM_011535121.1:c.3185A>T	XP_011533423.1:p.Gln1062Leu
XM_011535122.1:c.2366A>T	XP_011533424.1:p.Gln789Leu
XR_941601.1:n.3917A>T
XR_941602.1:n.3917A>T
XR_941603.1:n.3917A>T
XR_941604.1:n.3917A>T
NM_001330578.1:c.3464A>T	NP_001317507.1:p.Gln1155Leu
NM_001330579.1:c.3446A>T	NP_001317508.1:p.Gln1149Leu
XM_005266424.4:c.3602A>T	XP_005266481.1:p.Gln1201Leu
XM_005266430.4:c.3698A>T	XP_005266487.1:p.Gln1233Leu
XM_005266431.4:c.3662A>T	XP_005266488.1:p.Gln1221Leu
XM_006719837.3:c.3602A>T	XP_006719900.1:p.Gln1201Leu
XM_011535117.3:c.3602A>T	XP_011533419.1:p.Gln1201Leu
XM_017020627.1:c.3602A>T	XP_016876116.1:p.Gln1201Leu
NM_000053.4:c.3698A>T MANE Select	NP_000044.2:p.Gln1233Leu
NM_001005918.3:c.3077A>T	NP_001005918.1:p.Gln1026Leu
NM_001330579.2:c.3446A>T	NP_001317508.1:p.Gln1149Leu
NM_001243182.2:c.3365A>T	NP_001230111.1:p.Gln1122Leu
NM_001330578.2:c.3464A>T	NP_001317507.1:p.Gln1155Leu