Canonical Allele Identifier: CA16043475

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 374060
• ClinVar RCV Id: RCV000415306 ; RCV001198322
• dbSNP Id: rs1057518867
• gnomAD v4: 13-51946381-C-T
• MyVariant Identifiers: chr13:g.52520517C>T (hg19) ; chr13:g.51946381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946381C>T , CM000675.2:g.51946381C>T	GRCh38
NC_000013.10:g.52520517C>T , CM000675.1:g.52520517C>T	GRCh37
NC_000013.9:g.51418518C>T	NCBI36
NG_008806.1:g.70114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*796G>A	ENSP00000489512.2:n.*796G>A
ENST00000673864.2:c.*1707G>A	ENSP00000501045.2:n.*1707G>A
ENST00000674147.2:c.2342G>A	ENSP00000500964.2:p.Gly781Glu
ENST00000242839.10:c.2963G>A MANE Select	ENSP00000242839.5:p.Gly988Glu
ENST00000344297.9:c.2342G>A	ENSP00000342559.5:p.Gly781Glu
ENST00000400366.6:c.2630G>A	ENSP00000383217.3:p.Gly877Glu
ENST00000448424.7:c.2711G>A	ENSP00000416738.3:p.Gly904Glu
ENST00000673772.1:c.2729G>A	ENSP00000501168.1:p.Gly910Glu
ENST00000673867.1:n.1110G>A
ENST00000674126.1:n.3326G>A
ENST00000674147.1:c.1898G>A	ENSP00000500964.1:p.Gly633Glu
ENST00000242839.8:c.2963G>A	ENSP00000242839.4:p.Gly988Glu
ENST00000344297.8:c.2342G>A	ENSP00000342559.5:p.Gly781Glu
ENST00000400366.5:c.2630G>A	ENSP00000383217.3:p.Gly877Glu
ENST00000400370.8:c.1673G>A	ENSP00000383221.3:p.Gly558Glu
ENST00000418097.7:c.2866-2090G>A	ENSP00000393343.2:n.2866-2090G>A
ENST00000448424.6:c.2729G>A	ENSP00000416738.2:p.Gly910Glu
ENST00000466629.1:n.183G>A
ENST00000634296.1:c.924G>A
ENST00000634308.1:c.*64G>A	ENSP00000489234.1:n.*64G>A
ENST00000634620.1:n.3707G>A
ENST00000634810.1:n.2308G>A
ENST00000634844.1:c.2819G>A	ENSP00000489398.1:p.Gly940Glu
ENST00000635406.1:n.309G>A
NM_000053.3:c.2963G>A	NP_000044.2:p.Gly988Glu
NM_001005918.2:c.2342G>A	NP_001005918.1:p.Gly781Glu
NM_001243182.1:c.2630G>A	NP_001230111.1:p.Gly877Glu
XM_005266423.2:c.2867G>A	XP_005266480.1:p.Gly956Glu
XM_005266424.3:c.2867G>A	XP_005266481.1:p.Gly956Glu
XM_005266427.2:c.2729G>A	XP_005266484.1:p.Gly910Glu
XM_005266428.1:c.2711G>A	XP_005266485.1:p.Gly904Glu
XM_005266430.3:c.2963G>A	XP_005266487.1:p.Gly988Glu
XM_005266431.2:c.2927G>A	XP_005266488.1:p.Gly976Glu
XM_005266432.2:c.2477G>A	XP_005266489.1:p.Gly826Glu
XM_006719837.2:c.2867G>A	XP_006719900.1:p.Gly956Glu
XM_006719838.1:c.779G>A	XP_006719901.1:p.Gly260Glu
XM_006719839.1:c.779G>A	XP_006719902.1:p.Gly260Glu
XM_011535117.1:c.2867G>A	XP_011533419.1:p.Gly956Glu
XM_011535118.1:c.2828G>A	XP_011533420.1:p.Gly943Glu
XM_011535119.1:c.2963G>A	XP_011533421.1:p.Gly988Glu
XM_011535120.1:c.2549G>A	XP_011533422.1:p.Gly850Glu
XM_011535121.1:c.2730+3626G>A	XP_011533423.1:n.2730+3626G>A
XM_011535122.1:c.1631G>A	XP_011533424.1:p.Gly544Glu
XR_941601.1:n.3182G>A
XR_941602.1:n.3182G>A
XR_941603.1:n.3182G>A
XR_941604.1:n.3182G>A
NM_001330578.1:c.2729G>A	NP_001317507.1:p.Gly910Glu
NM_001330579.1:c.2711G>A	NP_001317508.1:p.Gly904Glu
XM_005266424.4:c.2867G>A	XP_005266481.1:p.Gly956Glu
XM_005266430.4:c.2963G>A	XP_005266487.1:p.Gly988Glu
XM_005266431.4:c.2927G>A	XP_005266488.1:p.Gly976Glu
XM_006719837.3:c.2867G>A	XP_006719900.1:p.Gly956Glu
XM_011535117.3:c.2867G>A	XP_011533419.1:p.Gly956Glu
XM_017020627.1:c.2867G>A	XP_016876116.1:p.Gly956Glu
NM_000053.4:c.2963G>A MANE Select	NP_000044.2:p.Gly988Glu
NM_001005918.3:c.2342G>A	NP_001005918.1:p.Gly781Glu
NM_001330579.2:c.2711G>A	NP_001317508.1:p.Gly904Glu
NM_001243182.2:c.2630G>A	NP_001230111.1:p.Gly877Glu
NM_001330578.2:c.2729G>A	NP_001317507.1:p.Gly910Glu