Canonical Allele Identifier: CA388031701

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 991417
• ClinVar RCV Id: RCV001279626
• dbSNP Id: rs1957646412
• gnomAD v4: 13-51946284-C-A
• MyVariant Identifiers: chr13:g.52520420C>A (hg19) ; chr13:g.51946284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946284C>A , CM000675.2:g.51946284C>A	GRCh38
NC_000013.10:g.52520420C>A , CM000675.1:g.52520420C>A	GRCh37
NC_000013.9:g.51418421C>A	NCBI36
NG_008806.1:g.70211G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*893G>T	ENSP00000489512.2:n.*893G>T
ENST00000673864.2:c.*1804G>T	ENSP00000501045.2:n.*1804G>T
ENST00000674147.2:c.2439G>T	ENSP00000500964.2:p.Lys813Asn
ENST00000242839.10:c.3060G>T MANE Select	ENSP00000242839.5:p.Lys1020Asn
ENST00000344297.9:c.2439G>T	ENSP00000342559.5:p.Lys813Asn
ENST00000400366.6:c.2727G>T	ENSP00000383217.3:p.Lys909Asn
ENST00000448424.7:c.2808G>T	ENSP00000416738.3:p.Lys936Asn
ENST00000673772.1:c.2826G>T	ENSP00000501168.1:p.Lys942Asn
ENST00000673867.1:n.1207G>T
ENST00000674126.1:n.3423G>T
ENST00000674147.1:c.1995G>T	ENSP00000500964.1:p.Lys665Asn
ENST00000242839.8:c.3060G>T	ENSP00000242839.4:p.Lys1020Asn
ENST00000344297.8:c.2439G>T	ENSP00000342559.5:p.Lys813Asn
ENST00000400366.5:c.2727G>T	ENSP00000383217.3:p.Lys909Asn
ENST00000400370.8:c.1770G>T	ENSP00000383221.3:p.Lys590Asn
ENST00000418097.7:c.2866-1993G>T	ENSP00000393343.2:n.2866-1993G>T
ENST00000448424.6:c.2826G>T	ENSP00000416738.2:p.Lys942Asn
ENST00000466629.1:n.280G>T
ENST00000634296.1:c.1021G>T
ENST00000634308.1:c.*161G>T	ENSP00000489234.1:n.*161G>T
ENST00000634620.1:n.3804G>T
ENST00000634810.1:n.2405G>T
ENST00000634844.1:c.2916G>T	ENSP00000489398.1:p.Lys972Asn
ENST00000635406.1:n.406G>T
NM_000053.3:c.3060G>T	NP_000044.2:p.Lys1020Asn
NM_001005918.2:c.2439G>T	NP_001005918.1:p.Lys813Asn
NM_001243182.1:c.2727G>T	NP_001230111.1:p.Lys909Asn
XM_005266423.2:c.2964G>T	XP_005266480.1:p.Lys988Asn
XM_005266424.3:c.2964G>T	XP_005266481.1:p.Lys988Asn
XM_005266427.2:c.2826G>T	XP_005266484.1:p.Lys942Asn
XM_005266428.1:c.2808G>T	XP_005266485.1:p.Lys936Asn
XM_005266430.3:c.3060G>T	XP_005266487.1:p.Lys1020Asn
XM_005266431.2:c.3024G>T	XP_005266488.1:p.Lys1008Asn
XM_005266432.2:c.2574G>T	XP_005266489.1:p.Lys858Asn
XM_006719837.2:c.2964G>T	XP_006719900.1:p.Lys988Asn
XM_006719838.1:c.876G>T	XP_006719901.1:p.Lys292Asn
XM_006719839.1:c.876G>T	XP_006719902.1:p.Lys292Asn
XM_011535117.1:c.2964G>T	XP_011533419.1:p.Lys988Asn
XM_011535118.1:c.2925G>T	XP_011533420.1:p.Lys975Asn
XM_011535119.1:c.3060G>T	XP_011533421.1:p.Lys1020Asn
XM_011535120.1:c.2646G>T	XP_011533422.1:p.Lys882Asn
XM_011535121.1:c.2730+3723G>T	XP_011533423.1:n.2730+3723G>T
XM_011535122.1:c.1728G>T	XP_011533424.1:p.Lys576Asn
XR_941601.1:n.3279G>T
XR_941602.1:n.3279G>T
XR_941603.1:n.3279G>T
XR_941604.1:n.3279G>T
NM_001330578.1:c.2826G>T	NP_001317507.1:p.Lys942Asn
NM_001330579.1:c.2808G>T	NP_001317508.1:p.Lys936Asn
XM_005266424.4:c.2964G>T	XP_005266481.1:p.Lys988Asn
XM_005266430.4:c.3060G>T	XP_005266487.1:p.Lys1020Asn
XM_005266431.4:c.3024G>T	XP_005266488.1:p.Lys1008Asn
XM_006719837.3:c.2964G>T	XP_006719900.1:p.Lys988Asn
XM_011535117.3:c.2964G>T	XP_011533419.1:p.Lys988Asn
XM_017020627.1:c.2964G>T	XP_016876116.1:p.Lys988Asn
NM_000053.4:c.3060G>T MANE Select	NP_000044.2:p.Lys1020Asn
NM_001005918.3:c.2439G>T	NP_001005918.1:p.Lys813Asn
NM_001330579.2:c.2808G>T	NP_001317508.1:p.Lys936Asn
NM_001243182.2:c.2727G>T	NP_001230111.1:p.Lys909Asn
NM_001330578.2:c.2826G>T	NP_001317507.1:p.Lys942Asn