Canonical Allele Identifier: CA388032483

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946448-C-A
• MyVariant Identifiers: chr13:g.52520584C>A (hg19) ; chr13:g.51946448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946448C>A , CM000675.2:g.51946448C>A	GRCh38
NC_000013.10:g.52520584C>A , CM000675.1:g.52520584C>A	GRCh37
NC_000013.9:g.51418585C>A	NCBI36
NG_008806.1:g.70047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*729G>T	ENSP00000489512.2:n.*729G>T
ENST00000673864.2:c.*1640G>T	ENSP00000501045.2:n.*1640G>T
ENST00000674147.2:c.2275G>T	ENSP00000500964.2:p.Val759Leu
ENST00000242839.10:c.2896G>T MANE Select	ENSP00000242839.5:p.Val966Leu
ENST00000344297.9:c.2275G>T	ENSP00000342559.5:p.Val759Leu
ENST00000400366.6:c.2563G>T	ENSP00000383217.3:p.Val855Leu
ENST00000448424.7:c.2644G>T	ENSP00000416738.3:p.Val882Leu
ENST00000673772.1:c.2662G>T	ENSP00000501168.1:p.Val888Leu
ENST00000673867.1:n.1043G>T
ENST00000674126.1:n.3259G>T
ENST00000674147.1:c.1831G>T	ENSP00000500964.1:p.Val611Leu
ENST00000242839.8:c.2896G>T	ENSP00000242839.4:p.Val966Leu
ENST00000344297.8:c.2275G>T	ENSP00000342559.5:p.Val759Leu
ENST00000400366.5:c.2563G>T	ENSP00000383217.3:p.Val855Leu
ENST00000400370.8:c.1606G>T	ENSP00000383221.3:p.Val536Leu
ENST00000418097.7:c.2866-2157G>T	ENSP00000393343.2:n.2866-2157G>T
ENST00000448424.6:c.2662G>T	ENSP00000416738.2:p.Val888Leu
ENST00000466629.1:n.116G>T
ENST00000634296.1:c.857G>T
ENST00000634308.1:c.2682G>T	ENSP00000489234.1:p.Arg894Ser
ENST00000634620.1:n.3640G>T
ENST00000634810.1:n.2241G>T
ENST00000634844.1:c.2752G>T	ENSP00000489398.1:p.Val918Leu
ENST00000635406.1:n.242G>T
NM_000053.3:c.2896G>T	NP_000044.2:p.Val966Leu
NM_001005918.2:c.2275G>T	NP_001005918.1:p.Val759Leu
NM_001243182.1:c.2563G>T	NP_001230111.1:p.Val855Leu
XM_005266423.2:c.2800G>T	XP_005266480.1:p.Val934Leu
XM_005266424.3:c.2800G>T	XP_005266481.1:p.Val934Leu
XM_005266427.2:c.2662G>T	XP_005266484.1:p.Val888Leu
XM_005266428.1:c.2644G>T	XP_005266485.1:p.Val882Leu
XM_005266430.3:c.2896G>T	XP_005266487.1:p.Val966Leu
XM_005266431.2:c.2860G>T	XP_005266488.1:p.Val954Leu
XM_005266432.2:c.2410G>T	XP_005266489.1:p.Val804Leu
XM_006719837.2:c.2800G>T	XP_006719900.1:p.Val934Leu
XM_006719838.1:c.712G>T	XP_006719901.1:p.Val238Leu
XM_006719839.1:c.712G>T	XP_006719902.1:p.Val238Leu
XM_011535117.1:c.2800G>T	XP_011533419.1:p.Val934Leu
XM_011535118.1:c.2761G>T	XP_011533420.1:p.Val921Leu
XM_011535119.1:c.2896G>T	XP_011533421.1:p.Val966Leu
XM_011535120.1:c.2482G>T	XP_011533422.1:p.Val828Leu
XM_011535121.1:c.2730+3559G>T	XP_011533423.1:n.2730+3559G>T
XM_011535122.1:c.1564G>T	XP_011533424.1:p.Val522Leu
XR_941601.1:n.3115G>T
XR_941602.1:n.3115G>T
XR_941603.1:n.3115G>T
XR_941604.1:n.3115G>T
NM_001330578.1:c.2662G>T	NP_001317507.1:p.Val888Leu
NM_001330579.1:c.2644G>T	NP_001317508.1:p.Val882Leu
XM_005266424.4:c.2800G>T	XP_005266481.1:p.Val934Leu
XM_005266430.4:c.2896G>T	XP_005266487.1:p.Val966Leu
XM_005266431.4:c.2860G>T	XP_005266488.1:p.Val954Leu
XM_006719837.3:c.2800G>T	XP_006719900.1:p.Val934Leu
XM_011535117.3:c.2800G>T	XP_011533419.1:p.Val934Leu
XM_017020627.1:c.2800G>T	XP_016876116.1:p.Val934Leu
NM_000053.4:c.2896G>T MANE Select	NP_000044.2:p.Val966Leu
NM_001005918.3:c.2275G>T	NP_001005918.1:p.Val759Leu
NM_001330579.2:c.2644G>T	NP_001317508.1:p.Val882Leu
NM_001243182.2:c.2563G>T	NP_001230111.1:p.Val855Leu
NM_001330578.2:c.2662G>T	NP_001317507.1:p.Val888Leu