Canonical Allele Identifier: CA388023994

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513246C>T (hg19) ; chr13:g.51939110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939110C>T , CM000675.2:g.51939110C>T	GRCh38
NC_000013.10:g.52513246C>T , CM000675.1:g.52513246C>T	GRCh37
NC_000013.9:g.51411247C>T	NCBI36
NG_008806.1:g.77385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1290G>A	ENSP00000489512.2:n.*1290G>A
ENST00000673864.2:c.*2384G>A	ENSP00000501045.2:n.*2384G>A
ENST00000674147.2:c.3019G>A	ENSP00000500964.2:p.Val1007Met
ENST00000242839.10:c.3640G>A MANE Select	ENSP00000242839.5:p.Val1214Met
ENST00000344297.9:c.3019G>A	ENSP00000342559.5:p.Val1007Met
ENST00000400366.6:c.3307G>A	ENSP00000383217.3:p.Val1103Met
ENST00000448424.7:c.3388G>A	ENSP00000416738.3:p.Val1130Met
ENST00000673696.1:n.881G>A
ENST00000673772.1:c.3406G>A	ENSP00000501168.1:p.Val1136Met
ENST00000673867.1:n.3779G>A
ENST00000673923.1:n.506G>A
ENST00000674147.1:c.2575G>A	ENSP00000500964.1:p.Val859Met
ENST00000242839.8:c.3640G>A	ENSP00000242839.4:p.Val1214Met
ENST00000344297.8:c.3019G>A	ENSP00000342559.5:p.Val1007Met
ENST00000400366.5:c.3307G>A	ENSP00000383217.3:p.Val1103Met
ENST00000400370.8:c.2350G>A	ENSP00000383221.3:p.Val784Met
ENST00000418097.7:c.3445G>A	ENSP00000393343.2:p.Val1149Met
ENST00000448424.6:c.3406G>A	ENSP00000416738.2:p.Val1136Met
ENST00000634296.1:c.1418G>A
ENST00000634308.1:c.*741G>A	ENSP00000489234.1:n.*741G>A
ENST00000634620.1:n.4384G>A
ENST00000634810.1:n.2985G>A
ENST00000634844.1:c.3496G>A	ENSP00000489398.1:p.Val1166Met
NM_000053.3:c.3640G>A	NP_000044.2:p.Val1214Met
NM_001005918.2:c.3019G>A	NP_001005918.1:p.Val1007Met
NM_001243182.1:c.3307G>A	NP_001230111.1:p.Val1103Met
XM_005266423.2:c.3544G>A	XP_005266480.1:p.Val1182Met
XM_005266424.3:c.3544G>A	XP_005266481.1:p.Val1182Met
XM_005266427.2:c.3406G>A	XP_005266484.1:p.Val1136Met
XM_005266428.1:c.3388G>A	XP_005266485.1:p.Val1130Met
XM_005266430.3:c.3640G>A	XP_005266487.1:p.Val1214Met
XM_005266431.2:c.3604G>A	XP_005266488.1:p.Val1202Met
XM_005266432.2:c.3154G>A	XP_005266489.1:p.Val1052Met
XM_006719837.2:c.3544G>A	XP_006719900.1:p.Val1182Met
XM_006719838.1:c.1456G>A	XP_006719901.1:p.Val486Met
XM_006719839.1:c.1273G>A	XP_006719902.1:p.Val425Met
XM_011535117.1:c.3544G>A	XP_011533419.1:p.Val1182Met
XM_011535118.1:c.3505G>A	XP_011533420.1:p.Val1169Met
XM_011535119.1:c.3457G>A	XP_011533421.1:p.Val1153Met
XM_011535120.1:c.3226G>A	XP_011533422.1:p.Val1076Met
XM_011535121.1:c.3127G>A	XP_011533423.1:p.Val1043Met
XM_011535122.1:c.2308G>A	XP_011533424.1:p.Val770Met
XR_941601.1:n.3859G>A
XR_941602.1:n.3859G>A
XR_941603.1:n.3859G>A
XR_941604.1:n.3859G>A
NM_001330578.1:c.3406G>A	NP_001317507.1:p.Val1136Met
NM_001330579.1:c.3388G>A	NP_001317508.1:p.Val1130Met
XM_005266424.4:c.3544G>A	XP_005266481.1:p.Val1182Met
XM_005266430.4:c.3640G>A	XP_005266487.1:p.Val1214Met
XM_005266431.4:c.3604G>A	XP_005266488.1:p.Val1202Met
XM_006719837.3:c.3544G>A	XP_006719900.1:p.Val1182Met
XM_011535117.3:c.3544G>A	XP_011533419.1:p.Val1182Met
XM_017020627.1:c.3544G>A	XP_016876116.1:p.Val1182Met
NM_000053.4:c.3640G>A MANE Select	NP_000044.2:p.Val1214Met
NM_001005918.3:c.3019G>A	NP_001005918.1:p.Val1007Met
NM_001330579.2:c.3388G>A	NP_001317508.1:p.Val1130Met
NM_001243182.2:c.3307G>A	NP_001230111.1:p.Val1103Met
NM_001330578.2:c.3406G>A	NP_001317507.1:p.Val1136Met