Canonical Allele Identifier: CA483894049

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515305G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941169G>C , CM000675.2:g.51941169G>C	GRCh38
NC_000013.10:g.52515305G>C , CM000675.1:g.52515305G>C	GRCh37
NC_000013.9:g.51413306G>C	NCBI36
NG_008806.1:g.75326C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1118C>G	ENSP00000489512.2:n.*1118C>G
ENST00000673864.2:c.*2212C>G	ENSP00000501045.2:n.*2212C>G
ENST00000674147.2:c.2847C>G	ENSP00000500964.2:p.Arg949=
ENST00000242839.10:c.3468C>G MANE Select	ENSP00000242839.5:p.Arg1156=
ENST00000344297.9:c.2847C>G	ENSP00000342559.5:p.Arg949=
ENST00000400366.6:c.3135C>G	ENSP00000383217.3:p.Arg1045=
ENST00000448424.7:c.3216C>G	ENSP00000416738.3:p.Arg1072=
ENST00000673772.1:c.3234C>G	ENSP00000501168.1:p.Arg1078=
ENST00000673867.1:n.3607C>G
ENST00000674126.1:n.3831C>G
ENST00000674147.1:c.2403C>G	ENSP00000500964.1:p.Arg801=
ENST00000242839.8:c.3468C>G	ENSP00000242839.4:p.Arg1156=
ENST00000344297.8:c.2847C>G	ENSP00000342559.5:p.Arg949=
ENST00000400366.5:c.3135C>G	ENSP00000383217.3:p.Arg1045=
ENST00000400370.8:c.2178C>G	ENSP00000383221.3:p.Arg726=
ENST00000418097.7:c.3273C>G	ENSP00000393343.2:p.Arg1091=
ENST00000448424.6:c.3234C>G	ENSP00000416738.2:p.Arg1078=
ENST00000634296.1:c.1246C>G
ENST00000634308.1:c.*569C>G	ENSP00000489234.1:n.*569C>G
ENST00000634620.1:n.4212C>G
ENST00000634810.1:n.2813C>G
ENST00000634844.1:c.3324C>G	ENSP00000489398.1:p.Arg1108=
NM_000053.3:c.3468C>G	NP_000044.2:p.Arg1156=
NM_001005918.2:c.2847C>G	NP_001005918.1:p.Arg949=
NM_001243182.1:c.3135C>G	NP_001230111.1:p.Arg1045=
XM_005266423.2:c.3372C>G	XP_005266480.1:p.Arg1124=
XM_005266424.3:c.3372C>G	XP_005266481.1:p.Arg1124=
XM_005266427.2:c.3234C>G	XP_005266484.1:p.Arg1078=
XM_005266428.1:c.3216C>G	XP_005266485.1:p.Arg1072=
XM_005266430.3:c.3468C>G	XP_005266487.1:p.Arg1156=
XM_005266431.2:c.3432C>G	XP_005266488.1:p.Arg1144=
XM_005266432.2:c.2982C>G	XP_005266489.1:p.Arg994=
XM_006719837.2:c.3372C>G	XP_006719900.1:p.Arg1124=
XM_006719838.1:c.1284C>G	XP_006719901.1:p.Arg428=
XM_006719839.1:c.1101C>G	XP_006719902.1:p.Arg367=
XM_011535117.1:c.3372C>G	XP_011533419.1:p.Arg1124=
XM_011535118.1:c.3333C>G	XP_011533420.1:p.Arg1111=
XM_011535119.1:c.3285C>G	XP_011533421.1:p.Arg1095=
XM_011535120.1:c.3054C>G	XP_011533422.1:p.Arg1018=
XM_011535121.1:c.2955C>G	XP_011533423.1:p.Arg985=
XM_011535122.1:c.2136C>G	XP_011533424.1:p.Arg712=
XR_941601.1:n.3687C>G
XR_941602.1:n.3687C>G
XR_941603.1:n.3687C>G
XR_941604.1:n.3687C>G
NM_001330578.1:c.3234C>G	NP_001317507.1:p.Arg1078=
NM_001330579.1:c.3216C>G	NP_001317508.1:p.Arg1072=
XM_005266424.4:c.3372C>G	XP_005266481.1:p.Arg1124=
XM_005266430.4:c.3468C>G	XP_005266487.1:p.Arg1156=
XM_005266431.4:c.3432C>G	XP_005266488.1:p.Arg1144=
XM_006719837.3:c.3372C>G	XP_006719900.1:p.Arg1124=
XM_011535117.3:c.3372C>G	XP_011533419.1:p.Arg1124=
XM_017020627.1:c.3372C>G	XP_016876116.1:p.Arg1124=
NM_000053.4:c.3468C>G MANE Select	NP_000044.2:p.Arg1156=
NM_001005918.3:c.2847C>G	NP_001005918.1:p.Arg949=
NM_001330579.2:c.3216C>G	NP_001317508.1:p.Arg1072=
NM_001243182.2:c.3135C>G	NP_001230111.1:p.Arg1045=
NM_001330578.2:c.3234C>G	NP_001317507.1:p.Arg1078=