Canonical Allele Identifier: CA388030094

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 983750
• ClinVar RCV Id: RCV001263753
• dbSNP Id: rs1957512345
• MyVariant Identifiers: chr13:g.52518325T>A (hg19) ; chr13:g.51944189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944189T>A , CM000675.2:g.51944189T>A	GRCh38
NC_000013.10:g.52518325T>A , CM000675.1:g.52518325T>A	GRCh37
NC_000013.9:g.51416326T>A	NCBI36
NG_008806.1:g.72306A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1635A>T	ENSP00000489512.2:n.*894-1635A>T
ENST00000673864.2:c.*1907A>T	ENSP00000501045.2:n.*1907A>T
ENST00000674147.2:c.2542A>T	ENSP00000500964.2:p.Lys848Ter
ENST00000242839.10:c.3163A>T MANE Select	ENSP00000242839.5:p.Lys1055Ter
ENST00000344297.9:c.2542A>T	ENSP00000342559.5:p.Lys848Ter
ENST00000400366.6:c.2830A>T	ENSP00000383217.3:p.Lys944Ter
ENST00000448424.7:c.2911A>T	ENSP00000416738.3:p.Lys971Ter
ENST00000673772.1:c.2929A>T	ENSP00000501168.1:p.Lys977Ter
ENST00000673867.1:n.3302A>T
ENST00000674126.1:n.3526A>T
ENST00000674147.1:c.2098A>T	ENSP00000500964.1:p.Lys700Ter
ENST00000242839.8:c.3163A>T	ENSP00000242839.4:p.Lys1055Ter
ENST00000344297.8:c.2542A>T	ENSP00000342559.5:p.Lys848Ter
ENST00000400366.5:c.2830A>T	ENSP00000383217.3:p.Lys944Ter
ENST00000400370.8:c.1873A>T	ENSP00000383221.3:p.Lys625Ter
ENST00000418097.7:c.2968A>T	ENSP00000393343.2:p.Lys990Ter
ENST00000448424.6:c.2929A>T	ENSP00000416738.2:p.Lys977Ter
ENST00000466629.1:n.383A>T
ENST00000634296.1:c.1022-1635A>T
ENST00000634308.1:c.*264A>T	ENSP00000489234.1:n.*264A>T
ENST00000634620.1:n.3907A>T
ENST00000634810.1:n.2508A>T
ENST00000634844.1:c.3019A>T	ENSP00000489398.1:p.Lys1007Ter
NM_000053.3:c.3163A>T	NP_000044.2:p.Lys1055Ter
NM_001005918.2:c.2542A>T	NP_001005918.1:p.Lys848Ter
NM_001243182.1:c.2830A>T	NP_001230111.1:p.Lys944Ter
XM_005266423.2:c.3067A>T	XP_005266480.1:p.Lys1023Ter
XM_005266424.3:c.3067A>T	XP_005266481.1:p.Lys1023Ter
XM_005266427.2:c.2929A>T	XP_005266484.1:p.Lys977Ter
XM_005266428.1:c.2911A>T	XP_005266485.1:p.Lys971Ter
XM_005266430.3:c.3163A>T	XP_005266487.1:p.Lys1055Ter
XM_005266431.2:c.3127A>T	XP_005266488.1:p.Lys1043Ter
XM_005266432.2:c.2677A>T	XP_005266489.1:p.Lys893Ter
XM_006719837.2:c.3067A>T	XP_006719900.1:p.Lys1023Ter
XM_006719838.1:c.979A>T	XP_006719901.1:p.Lys327Ter
XM_006719839.1:c.877-1635A>T	XP_006719902.1:n.877-1635A>T
XM_011535117.1:c.3067A>T	XP_011533419.1:p.Lys1023Ter
XM_011535118.1:c.3028A>T	XP_011533420.1:p.Lys1010Ter
XM_011535119.1:c.3061-1635A>T	XP_011533421.1:n.3061-1635A>T
XM_011535120.1:c.2749A>T	XP_011533422.1:p.Lys917Ter
XM_011535121.1:c.2731-1635A>T	XP_011533423.1:n.2731-1635A>T
XM_011535122.1:c.1831A>T	XP_011533424.1:p.Lys611Ter
XR_941601.1:n.3382A>T
XR_941602.1:n.3382A>T
XR_941603.1:n.3382A>T
XR_941604.1:n.3382A>T
NM_001330578.1:c.2929A>T	NP_001317507.1:p.Lys977Ter
NM_001330579.1:c.2911A>T	NP_001317508.1:p.Lys971Ter
XM_005266424.4:c.3067A>T	XP_005266481.1:p.Lys1023Ter
XM_005266430.4:c.3163A>T	XP_005266487.1:p.Lys1055Ter
XM_005266431.4:c.3127A>T	XP_005266488.1:p.Lys1043Ter
XM_006719837.3:c.3067A>T	XP_006719900.1:p.Lys1023Ter
XM_011535117.3:c.3067A>T	XP_011533419.1:p.Lys1023Ter
XM_017020627.1:c.3067A>T	XP_016876116.1:p.Lys1023Ter
NM_000053.4:c.3163A>T MANE Select	NP_000044.2:p.Lys1055Ter
NM_001005918.3:c.2542A>T	NP_001005918.1:p.Lys848Ter
NM_001330579.2:c.2911A>T	NP_001317508.1:p.Lys971Ter
NM_001243182.2:c.2830A>T	NP_001230111.1:p.Lys944Ter
NM_001330578.2:c.2929A>T	NP_001317507.1:p.Lys977Ter