Canonical Allele Identifier: CA270732

Gene: ATP7B

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958367dup , CM000675.2:g.51958367dup	GRCh38
NC_000013.10:g.52532503dup , CM000675.1:g.52532503dup	GRCh37
NC_000013.9:g.51430504dup	NCBI36
NG_008806.1:g.58133dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*137dup	ENSP00000489512.2:n.*137dup
ENST00000673864.2:c.*1048dup	ENSP00000501045.2:n.*1048dup
ENST00000674147.2:c.1870-755dup	ENSP00000500964.2:n.1870-755dup
ENST00000242839.10:c.2304dup MANE Select	ENSP00000242839.5:p.Met769HisfsTer26
ENST00000344297.9:c.1870-755dup	ENSP00000342559.5:n.1870-755dup
ENST00000400366.6:c.1971dup	ENSP00000383217.3:p.Met658HisfsTer26
ENST00000448424.7:c.2052dup	ENSP00000416738.3:p.Met685HisfsTer26
ENST00000673772.1:c.2122-755dup	ENSP00000501168.1:n.2122-755dup
ENST00000674147.1:c.1426-755dup	ENSP00000500964.1:n.1426-755dup
ENST00000242839.8:c.2304dup	ENSP00000242839.4:p.Met769HisfsTer26
ENST00000344297.8:c.1870-755dup	ENSP00000342559.5:n.1870-755dup
ENST00000400366.5:c.1971dup	ENSP00000383217.3:p.Met658HisfsTer26
ENST00000400370.8:c.1286-8201dup	ENSP00000383221.3:n.1286-8201dup
ENST00000418097.7:c.2304dup	ENSP00000393343.2:p.Met769HisfsTer26
ENST00000448424.6:c.2122-755dup	ENSP00000416738.2:n.2122-755dup
ENST00000634296.1:c.265dup
ENST00000634308.1:c.2122-755dup	ENSP00000489234.1:n.2122-755dup
ENST00000634620.1:n.2399dup
ENST00000634810.1:n.1649dup
ENST00000634844.1:c.2160dup	ENSP00000489398.1:p.Met721HisfsTer26
ENST00000635406.1:n.212-11884dup
NM_000053.3:c.2304dup	NP_000044.2:p.Met769HisfsTer26
NM_001005918.2:c.1870-755dup	NP_001005918.1:n.1870-755dup
NM_001243182.1:c.1971dup	NP_001230111.1:p.Met658HisfsTer26
XM_005266423.2:c.2208dup	XP_005266480.1:p.Met737HisfsTer26
XM_005266424.3:c.2208dup	XP_005266481.1:p.Met737HisfsTer26
XM_005266427.2:c.2122-755dup	XP_005266484.1:n.2122-755dup
XM_005266428.1:c.2052dup	XP_005266485.1:p.Met685HisfsTer26
XM_005266430.3:c.2304dup	XP_005266487.1:p.Met769HisfsTer26
XM_005266431.2:c.2268dup	XP_005266488.1:p.Met757HisfsTer26
XM_005266432.2:c.1870-755dup	XP_005266489.1:n.1870-755dup
XM_006719837.2:c.2208dup	XP_006719900.1:p.Met737HisfsTer26
XM_006719838.1:c.120dup	XP_006719901.1:p.Met41HisfsTer26
XM_006719839.1:c.120dup	XP_006719902.1:p.Met41HisfsTer26
XM_011535117.1:c.2208dup	XP_011533419.1:p.Met737HisfsTer26
XM_011535118.1:c.2304dup	XP_011533420.1:p.Met769HisfsTer26
XM_011535119.1:c.2304dup	XP_011533421.1:p.Met769HisfsTer26
XM_011535120.1:c.1890dup	XP_011533422.1:p.Met631HisfsTer26
XM_011535121.1:c.2304dup	XP_011533423.1:p.Met769HisfsTer26
XM_011535122.1:c.972dup	XP_011533424.1:p.Met325HisfsTer26
XR_941601.1:n.2523dup
XR_941602.1:n.2523dup
XR_941603.1:n.2523dup
XR_941604.1:n.2523dup
NM_001330578.1:c.2122-755dup	NP_001317507.1:n.2122-755dup
NM_001330579.1:c.2052dup	NP_001317508.1:p.Met685HisfsTer26
XM_005266424.4:c.2208dup	XP_005266481.1:p.Met737HisfsTer26
XM_005266430.4:c.2304dup	XP_005266487.1:p.Met769HisfsTer26
XM_005266431.4:c.2268dup	XP_005266488.1:p.Met757HisfsTer26
XM_006719837.3:c.2208dup	XP_006719900.1:p.Met737HisfsTer26
XM_011535117.3:c.2208dup	XP_011533419.1:p.Met737HisfsTer26
XM_017020627.1:c.2208dup	XP_016876116.1:p.Met737HisfsTer26
NM_000053.4:c.2304dup MANE Select	NP_000044.2:p.Met769HisfsTer26
NM_001005918.3:c.1870-755dup	NP_001005918.1:n.1870-755dup
NM_001330579.2:c.2052dup	NP_001317508.1:p.Met685HisfsTer26
NM_001243182.2:c.1971dup	NP_001230111.1:p.Met658HisfsTer26
NM_001330578.2:c.2122-755dup	NP_001317507.1:n.2122-755dup