Canonical Allele Identifier: CA388028872

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1725955
• ClinVar RCV Id: RCV002306926
• MyVariant Identifiers: chr13:g.52516669C>A (hg19) ; chr13:g.51942533C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942533C>A , CM000675.2:g.51942533C>A	GRCh38
NC_000013.10:g.52516669C>A , CM000675.1:g.52516669C>A	GRCh37
NC_000013.9:g.51414670C>A	NCBI36
NG_008806.1:g.73962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*915G>T	ENSP00000489512.2:n.*915G>T
ENST00000673864.2:c.*2009G>T	ENSP00000501045.2:n.*2009G>T
ENST00000674147.2:c.2644G>T	ENSP00000500964.2:p.Gly882Ter
ENST00000242839.10:c.3265G>T MANE Select	ENSP00000242839.5:p.Gly1089Ter
ENST00000344297.9:c.2644G>T	ENSP00000342559.5:p.Gly882Ter
ENST00000400366.6:c.2932G>T	ENSP00000383217.3:p.Gly978Ter
ENST00000448424.7:c.3013G>T	ENSP00000416738.3:p.Gly1005Ter
ENST00000673772.1:c.3031G>T	ENSP00000501168.1:p.Gly1011Ter
ENST00000673867.1:n.3404G>T
ENST00000674126.1:n.3628G>T
ENST00000674147.1:c.2200G>T	ENSP00000500964.1:p.Gly734Ter
ENST00000242839.8:c.3265G>T	ENSP00000242839.4:p.Gly1089Ter
ENST00000344297.8:c.2644G>T	ENSP00000342559.5:p.Gly882Ter
ENST00000400366.5:c.2932G>T	ENSP00000383217.3:p.Gly978Ter
ENST00000400370.8:c.1975G>T	ENSP00000383221.3:p.Gly659Ter
ENST00000418097.7:c.3070G>T	ENSP00000393343.2:p.Gly1024Ter
ENST00000448424.6:c.3031G>T	ENSP00000416738.2:p.Gly1011Ter
ENST00000634296.1:c.1043G>T
ENST00000634308.1:c.*366G>T	ENSP00000489234.1:n.*366G>T
ENST00000634620.1:n.4009G>T
ENST00000634810.1:n.2610G>T
ENST00000634844.1:c.3121G>T	ENSP00000489398.1:p.Gly1041Ter
NM_000053.3:c.3265G>T	NP_000044.2:p.Gly1089Ter
NM_001005918.2:c.2644G>T	NP_001005918.1:p.Gly882Ter
NM_001243182.1:c.2932G>T	NP_001230111.1:p.Gly978Ter
XM_005266423.2:c.3169G>T	XP_005266480.1:p.Gly1057Ter
XM_005266424.3:c.3169G>T	XP_005266481.1:p.Gly1057Ter
XM_005266427.2:c.3031G>T	XP_005266484.1:p.Gly1011Ter
XM_005266428.1:c.3013G>T	XP_005266485.1:p.Gly1005Ter
XM_005266430.3:c.3265G>T	XP_005266487.1:p.Gly1089Ter
XM_005266431.2:c.3229G>T	XP_005266488.1:p.Gly1077Ter
XM_005266432.2:c.2779G>T	XP_005266489.1:p.Gly927Ter
XM_006719837.2:c.3169G>T	XP_006719900.1:p.Gly1057Ter
XM_006719838.1:c.1081G>T	XP_006719901.1:p.Gly361Ter
XM_006719839.1:c.898G>T	XP_006719902.1:p.Gly300Ter
XM_011535117.1:c.3169G>T	XP_011533419.1:p.Gly1057Ter
XM_011535118.1:c.3130G>T	XP_011533420.1:p.Gly1044Ter
XM_011535119.1:c.3082G>T	XP_011533421.1:p.Gly1028Ter
XM_011535120.1:c.2851G>T	XP_011533422.1:p.Gly951Ter
XM_011535121.1:c.2752G>T	XP_011533423.1:p.Gly918Ter
XM_011535122.1:c.1933G>T	XP_011533424.1:p.Gly645Ter
XR_941601.1:n.3484G>T
XR_941602.1:n.3484G>T
XR_941603.1:n.3484G>T
XR_941604.1:n.3484G>T
NM_001330578.1:c.3031G>T	NP_001317507.1:p.Gly1011Ter
NM_001330579.1:c.3013G>T	NP_001317508.1:p.Gly1005Ter
XM_005266424.4:c.3169G>T	XP_005266481.1:p.Gly1057Ter
XM_005266430.4:c.3265G>T	XP_005266487.1:p.Gly1089Ter
XM_005266431.4:c.3229G>T	XP_005266488.1:p.Gly1077Ter
XM_006719837.3:c.3169G>T	XP_006719900.1:p.Gly1057Ter
XM_011535117.3:c.3169G>T	XP_011533419.1:p.Gly1057Ter
XM_017020627.1:c.3169G>T	XP_016876116.1:p.Gly1057Ter
NM_000053.4:c.3265G>T MANE Select	NP_000044.2:p.Gly1089Ter
NM_001005918.3:c.2644G>T	NP_001005918.1:p.Gly882Ter
NM_001330579.2:c.3013G>T	NP_001317508.1:p.Gly1005Ter
NM_001243182.2:c.2932G>T	NP_001230111.1:p.Gly978Ter
NM_001330578.2:c.3031G>T	NP_001317507.1:p.Gly1011Ter