Canonical Allele Identifier: CA388030110

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518331G>T (hg19) ; chr13:g.51944195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944195G>T , CM000675.2:g.51944195G>T	GRCh38
NC_000013.10:g.52518331G>T , CM000675.1:g.52518331G>T	GRCh37
NC_000013.9:g.51416332G>T	NCBI36
NG_008806.1:g.72300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1641C>A	ENSP00000489512.2:n.*894-1641C>A
ENST00000673864.2:c.*1901C>A	ENSP00000501045.2:n.*1901C>A
ENST00000674147.2:c.2536C>A	ENSP00000500964.2:p.Leu846Ile
ENST00000242839.10:c.3157C>A MANE Select	ENSP00000242839.5:p.Leu1053Ile
ENST00000344297.9:c.2536C>A	ENSP00000342559.5:p.Leu846Ile
ENST00000400366.6:c.2824C>A	ENSP00000383217.3:p.Leu942Ile
ENST00000448424.7:c.2905C>A	ENSP00000416738.3:p.Leu969Ile
ENST00000673772.1:c.2923C>A	ENSP00000501168.1:p.Leu975Ile
ENST00000673867.1:n.3296C>A
ENST00000674126.1:n.3520C>A
ENST00000674147.1:c.2092C>A	ENSP00000500964.1:p.Leu698Ile
ENST00000242839.8:c.3157C>A	ENSP00000242839.4:p.Leu1053Ile
ENST00000344297.8:c.2536C>A	ENSP00000342559.5:p.Leu846Ile
ENST00000400366.5:c.2824C>A	ENSP00000383217.3:p.Leu942Ile
ENST00000400370.8:c.1867C>A	ENSP00000383221.3:p.Leu623Ile
ENST00000418097.7:c.2962C>A	ENSP00000393343.2:p.Leu988Ile
ENST00000448424.6:c.2923C>A	ENSP00000416738.2:p.Leu975Ile
ENST00000466629.1:n.377C>A
ENST00000634296.1:c.1022-1641C>A
ENST00000634308.1:c.*258C>A	ENSP00000489234.1:n.*258C>A
ENST00000634620.1:n.3901C>A
ENST00000634810.1:n.2502C>A
ENST00000634844.1:c.3013C>A	ENSP00000489398.1:p.Leu1005Ile
ENST00000635406.1:n.503C>A
NM_000053.3:c.3157C>A	NP_000044.2:p.Leu1053Ile
NM_001005918.2:c.2536C>A	NP_001005918.1:p.Leu846Ile
NM_001243182.1:c.2824C>A	NP_001230111.1:p.Leu942Ile
XM_005266423.2:c.3061C>A	XP_005266480.1:p.Leu1021Ile
XM_005266424.3:c.3061C>A	XP_005266481.1:p.Leu1021Ile
XM_005266427.2:c.2923C>A	XP_005266484.1:p.Leu975Ile
XM_005266428.1:c.2905C>A	XP_005266485.1:p.Leu969Ile
XM_005266430.3:c.3157C>A	XP_005266487.1:p.Leu1053Ile
XM_005266431.2:c.3121C>A	XP_005266488.1:p.Leu1041Ile
XM_005266432.2:c.2671C>A	XP_005266489.1:p.Leu891Ile
XM_006719837.2:c.3061C>A	XP_006719900.1:p.Leu1021Ile
XM_006719838.1:c.973C>A	XP_006719901.1:p.Leu325Ile
XM_006719839.1:c.877-1641C>A	XP_006719902.1:n.877-1641C>A
XM_011535117.1:c.3061C>A	XP_011533419.1:p.Leu1021Ile
XM_011535118.1:c.3022C>A	XP_011533420.1:p.Leu1008Ile
XM_011535119.1:c.3061-1641C>A	XP_011533421.1:n.3061-1641C>A
XM_011535120.1:c.2743C>A	XP_011533422.1:p.Leu915Ile
XM_011535121.1:c.2731-1641C>A	XP_011533423.1:n.2731-1641C>A
XM_011535122.1:c.1825C>A	XP_011533424.1:p.Leu609Ile
XR_941601.1:n.3376C>A
XR_941602.1:n.3376C>A
XR_941603.1:n.3376C>A
XR_941604.1:n.3376C>A
NM_001330578.1:c.2923C>A	NP_001317507.1:p.Leu975Ile
NM_001330579.1:c.2905C>A	NP_001317508.1:p.Leu969Ile
XM_005266424.4:c.3061C>A	XP_005266481.1:p.Leu1021Ile
XM_005266430.4:c.3157C>A	XP_005266487.1:p.Leu1053Ile
XM_005266431.4:c.3121C>A	XP_005266488.1:p.Leu1041Ile
XM_006719837.3:c.3061C>A	XP_006719900.1:p.Leu1021Ile
XM_011535117.3:c.3061C>A	XP_011533419.1:p.Leu1021Ile
XM_017020627.1:c.3061C>A	XP_016876116.1:p.Leu1021Ile
NM_000053.4:c.3157C>A MANE Select	NP_000044.2:p.Leu1053Ile
NM_001005918.3:c.2536C>A	NP_001005918.1:p.Leu846Ile
NM_001330579.2:c.2905C>A	NP_001317508.1:p.Leu969Ile
NM_001243182.2:c.2824C>A	NP_001230111.1:p.Leu942Ile
NM_001330578.2:c.2923C>A	NP_001317507.1:p.Leu975Ile