Canonical Allele Identifier: CA388022096

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511732T>A (hg19) ; chr13:g.51937596T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937596T>A , CM000675.2:g.51937596T>A	GRCh38
NC_000013.10:g.52511732T>A , CM000675.1:g.52511732T>A	GRCh37
NC_000013.9:g.51409733T>A	NCBI36
NG_008806.1:g.78899A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1433A>T	ENSP00000489512.2:n.*1433A>T
ENST00000673864.2:c.*2527A>T	ENSP00000501045.2:n.*2527A>T
ENST00000674147.2:c.3162A>T	ENSP00000500964.2:p.Lys1054Asn
ENST00000242839.10:c.3783A>T MANE Select	ENSP00000242839.5:p.Lys1261Asn
ENST00000344297.9:c.3162A>T	ENSP00000342559.5:p.Lys1054Asn
ENST00000400366.6:c.3450A>T	ENSP00000383217.3:p.Lys1150Asn
ENST00000448424.7:c.3531A>T	ENSP00000416738.3:p.Lys1177Asn
ENST00000673696.1:n.1024A>T
ENST00000673772.1:c.3549A>T	ENSP00000501168.1:p.Lys1183Asn
ENST00000673867.1:n.3922A>T
ENST00000673923.1:n.649A>T
ENST00000674147.1:c.2718A>T	ENSP00000500964.1:p.Lys906Asn
ENST00000242839.8:c.3783A>T	ENSP00000242839.4:p.Lys1261Asn
ENST00000344297.8:c.3162A>T	ENSP00000342559.5:p.Lys1054Asn
ENST00000400366.5:c.3450A>T	ENSP00000383217.3:p.Lys1150Asn
ENST00000400370.8:c.2493A>T	ENSP00000383221.3:p.Lys831Asn
ENST00000418097.7:c.3588A>T	ENSP00000393343.2:p.Lys1196Asn
ENST00000448424.6:c.3549A>T	ENSP00000416738.2:p.Lys1183Asn
ENST00000634296.1:c.1561A>T
ENST00000634308.1:c.*884A>T	ENSP00000489234.1:n.*884A>T
ENST00000634620.1:n.4527A>T
ENST00000634810.1:n.3128A>T
ENST00000634844.1:c.3639A>T	ENSP00000489398.1:p.Lys1213Asn
NM_000053.3:c.3783A>T	NP_000044.2:p.Lys1261Asn
NM_001005918.2:c.3162A>T	NP_001005918.1:p.Lys1054Asn
NM_001243182.1:c.3450A>T	NP_001230111.1:p.Lys1150Asn
XM_005266423.2:c.3687A>T	XP_005266480.1:p.Lys1229Asn
XM_005266424.3:c.3687A>T	XP_005266481.1:p.Lys1229Asn
XM_005266427.2:c.3549A>T	XP_005266484.1:p.Lys1183Asn
XM_005266428.1:c.3531A>T	XP_005266485.1:p.Lys1177Asn
XM_005266430.3:c.3783A>T	XP_005266487.1:p.Lys1261Asn
XM_005266431.2:c.3747A>T	XP_005266488.1:p.Lys1249Asn
XM_005266432.2:c.3297A>T	XP_005266489.1:p.Lys1099Asn
XM_006719837.2:c.3687A>T	XP_006719900.1:p.Lys1229Asn
XM_006719838.1:c.1599A>T	XP_006719901.1:p.Lys533Asn
XM_006719839.1:c.1416A>T	XP_006719902.1:p.Lys472Asn
XM_011535117.1:c.3687A>T	XP_011533419.1:p.Lys1229Asn
XM_011535118.1:c.3648A>T	XP_011533420.1:p.Lys1216Asn
XM_011535119.1:c.3600A>T	XP_011533421.1:p.Lys1200Asn
XM_011535120.1:c.3369A>T	XP_011533422.1:p.Lys1123Asn
XM_011535121.1:c.3270A>T	XP_011533423.1:p.Lys1090Asn
XM_011535122.1:c.2451A>T	XP_011533424.1:p.Lys817Asn
XR_941601.1:n.4002A>T
XR_941602.1:n.4002A>T
XR_941603.1:n.4002A>T
XR_941604.1:n.4002A>T
NM_001330578.1:c.3549A>T	NP_001317507.1:p.Lys1183Asn
NM_001330579.1:c.3531A>T	NP_001317508.1:p.Lys1177Asn
XM_005266424.4:c.3687A>T	XP_005266481.1:p.Lys1229Asn
XM_005266430.4:c.3783A>T	XP_005266487.1:p.Lys1261Asn
XM_005266431.4:c.3747A>T	XP_005266488.1:p.Lys1249Asn
XM_006719837.3:c.3687A>T	XP_006719900.1:p.Lys1229Asn
XM_011535117.3:c.3687A>T	XP_011533419.1:p.Lys1229Asn
XM_017020627.1:c.3687A>T	XP_016876116.1:p.Lys1229Asn
NM_000053.4:c.3783A>T MANE Select	NP_000044.2:p.Lys1261Asn
NM_001005918.3:c.3162A>T	NP_001005918.1:p.Lys1054Asn
NM_001330579.2:c.3531A>T	NP_001317508.1:p.Lys1177Asn
NM_001243182.2:c.3450A>T	NP_001230111.1:p.Lys1150Asn
NM_001330578.2:c.3549A>T	NP_001317507.1:p.Lys1183Asn