Canonical Allele Identifier: CA483894911

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2014917
• ClinVar RCV Id: RCV002839195
• MyVariant Identifiers: chr13:g.52520489C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946353C>A , CM000675.2:g.51946353C>A	GRCh38
NC_000013.10:g.52520489C>A , CM000675.1:g.52520489C>A	GRCh37
NC_000013.9:g.51418490C>A	NCBI36
NG_008806.1:g.70142G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*824G>T	ENSP00000489512.2:n.*824G>T
ENST00000673864.2:c.*1735G>T	ENSP00000501045.2:n.*1735G>T
ENST00000674147.2:c.2370G>T	ENSP00000500964.2:p.Val790=
ENST00000242839.10:c.2991G>T MANE Select	ENSP00000242839.5:p.Val997=
ENST00000344297.9:c.2370G>T	ENSP00000342559.5:p.Val790=
ENST00000400366.6:c.2658G>T	ENSP00000383217.3:p.Val886=
ENST00000448424.7:c.2739G>T	ENSP00000416738.3:p.Val913=
ENST00000673772.1:c.2757G>T	ENSP00000501168.1:p.Val919=
ENST00000673867.1:n.1138G>T
ENST00000674126.1:n.3354G>T
ENST00000674147.1:c.1926G>T	ENSP00000500964.1:p.Val642=
ENST00000242839.8:c.2991G>T	ENSP00000242839.4:p.Val997=
ENST00000344297.8:c.2370G>T	ENSP00000342559.5:p.Val790=
ENST00000400366.5:c.2658G>T	ENSP00000383217.3:p.Val886=
ENST00000400370.8:c.1701G>T	ENSP00000383221.3:p.Val567=
ENST00000418097.7:c.2866-2062G>T	ENSP00000393343.2:n.2866-2062G>T
ENST00000448424.6:c.2757G>T	ENSP00000416738.2:p.Val919=
ENST00000466629.1:n.211G>T
ENST00000634296.1:c.952G>T
ENST00000634308.1:c.*92G>T	ENSP00000489234.1:n.*92G>T
ENST00000634620.1:n.3735G>T
ENST00000634810.1:n.2336G>T
ENST00000634844.1:c.2847G>T	ENSP00000489398.1:p.Val949=
ENST00000635406.1:n.337G>T
NM_000053.3:c.2991G>T	NP_000044.2:p.Val997=
NM_001005918.2:c.2370G>T	NP_001005918.1:p.Val790=
NM_001243182.1:c.2658G>T	NP_001230111.1:p.Val886=
XM_005266423.2:c.2895G>T	XP_005266480.1:p.Val965=
XM_005266424.3:c.2895G>T	XP_005266481.1:p.Val965=
XM_005266427.2:c.2757G>T	XP_005266484.1:p.Val919=
XM_005266428.1:c.2739G>T	XP_005266485.1:p.Val913=
XM_005266430.3:c.2991G>T	XP_005266487.1:p.Val997=
XM_005266431.2:c.2955G>T	XP_005266488.1:p.Val985=
XM_005266432.2:c.2505G>T	XP_005266489.1:p.Val835=
XM_006719837.2:c.2895G>T	XP_006719900.1:p.Val965=
XM_006719838.1:c.807G>T	XP_006719901.1:p.Val269=
XM_006719839.1:c.807G>T	XP_006719902.1:p.Val269=
XM_011535117.1:c.2895G>T	XP_011533419.1:p.Val965=
XM_011535118.1:c.2856G>T	XP_011533420.1:p.Val952=
XM_011535119.1:c.2991G>T	XP_011533421.1:p.Val997=
XM_011535120.1:c.2577G>T	XP_011533422.1:p.Val859=
XM_011535121.1:c.2730+3654G>T	XP_011533423.1:n.2730+3654G>T
XM_011535122.1:c.1659G>T	XP_011533424.1:p.Val553=
XR_941601.1:n.3210G>T
XR_941602.1:n.3210G>T
XR_941603.1:n.3210G>T
XR_941604.1:n.3210G>T
NM_001330578.1:c.2757G>T	NP_001317507.1:p.Val919=
NM_001330579.1:c.2739G>T	NP_001317508.1:p.Val913=
XM_005266424.4:c.2895G>T	XP_005266481.1:p.Val965=
XM_005266430.4:c.2991G>T	XP_005266487.1:p.Val997=
XM_005266431.4:c.2955G>T	XP_005266488.1:p.Val985=
XM_006719837.3:c.2895G>T	XP_006719900.1:p.Val965=
XM_011535117.3:c.2895G>T	XP_011533419.1:p.Val965=
XM_017020627.1:c.2895G>T	XP_016876116.1:p.Val965=
NM_000053.4:c.2991G>T MANE Select	NP_000044.2:p.Val997=
NM_001005918.3:c.2370G>T	NP_001005918.1:p.Val790=
NM_001330579.2:c.2739G>T	NP_001317508.1:p.Val913=
NM_001243182.2:c.2658G>T	NP_001230111.1:p.Val886=
NM_001330578.2:c.2757G>T	NP_001317507.1:p.Val919=