Canonical Allele Identifier: CA388023844

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513227G>C (hg19) ; chr13:g.51939091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939091G>C , CM000675.2:g.51939091G>C	GRCh38
NC_000013.10:g.52513227G>C , CM000675.1:g.52513227G>C	GRCh37
NC_000013.9:g.51411228G>C	NCBI36
NG_008806.1:g.77404C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1309C>G	ENSP00000489512.2:n.*1309C>G
ENST00000673864.2:c.*2403C>G	ENSP00000501045.2:n.*2403C>G
ENST00000674147.2:c.3038C>G	ENSP00000500964.2:p.Thr1013Arg
ENST00000242839.10:c.3659C>G MANE Select	ENSP00000242839.5:p.Thr1220Arg
ENST00000344297.9:c.3038C>G	ENSP00000342559.5:p.Thr1013Arg
ENST00000400366.6:c.3326C>G	ENSP00000383217.3:p.Thr1109Arg
ENST00000448424.7:c.3407C>G	ENSP00000416738.3:p.Thr1136Arg
ENST00000673696.1:n.900C>G
ENST00000673772.1:c.3425C>G	ENSP00000501168.1:p.Thr1142Arg
ENST00000673867.1:n.3798C>G
ENST00000673923.1:n.525C>G
ENST00000674147.1:c.2594C>G	ENSP00000500964.1:p.Thr865Arg
ENST00000242839.8:c.3659C>G	ENSP00000242839.4:p.Thr1220Arg
ENST00000344297.8:c.3038C>G	ENSP00000342559.5:p.Thr1013Arg
ENST00000400366.5:c.3326C>G	ENSP00000383217.3:p.Thr1109Arg
ENST00000400370.8:c.2369C>G	ENSP00000383221.3:p.Thr790Arg
ENST00000418097.7:c.3464C>G	ENSP00000393343.2:p.Thr1155Arg
ENST00000448424.6:c.3425C>G	ENSP00000416738.2:p.Thr1142Arg
ENST00000634296.1:c.1437C>G
ENST00000634308.1:c.*760C>G	ENSP00000489234.1:n.*760C>G
ENST00000634620.1:n.4403C>G
ENST00000634810.1:n.3004C>G
ENST00000634844.1:c.3515C>G	ENSP00000489398.1:p.Thr1172Arg
NM_000053.3:c.3659C>G	NP_000044.2:p.Thr1220Arg
NM_001005918.2:c.3038C>G	NP_001005918.1:p.Thr1013Arg
NM_001243182.1:c.3326C>G	NP_001230111.1:p.Thr1109Arg
XM_005266423.2:c.3563C>G	XP_005266480.1:p.Thr1188Arg
XM_005266424.3:c.3563C>G	XP_005266481.1:p.Thr1188Arg
XM_005266427.2:c.3425C>G	XP_005266484.1:p.Thr1142Arg
XM_005266428.1:c.3407C>G	XP_005266485.1:p.Thr1136Arg
XM_005266430.3:c.3659C>G	XP_005266487.1:p.Thr1220Arg
XM_005266431.2:c.3623C>G	XP_005266488.1:p.Thr1208Arg
XM_005266432.2:c.3173C>G	XP_005266489.1:p.Thr1058Arg
XM_006719837.2:c.3563C>G	XP_006719900.1:p.Thr1188Arg
XM_006719838.1:c.1475C>G	XP_006719901.1:p.Thr492Arg
XM_006719839.1:c.1292C>G	XP_006719902.1:p.Thr431Arg
XM_011535117.1:c.3563C>G	XP_011533419.1:p.Thr1188Arg
XM_011535118.1:c.3524C>G	XP_011533420.1:p.Thr1175Arg
XM_011535119.1:c.3476C>G	XP_011533421.1:p.Thr1159Arg
XM_011535120.1:c.3245C>G	XP_011533422.1:p.Thr1082Arg
XM_011535121.1:c.3146C>G	XP_011533423.1:p.Thr1049Arg
XM_011535122.1:c.2327C>G	XP_011533424.1:p.Thr776Arg
XR_941601.1:n.3878C>G
XR_941602.1:n.3878C>G
XR_941603.1:n.3878C>G
XR_941604.1:n.3878C>G
NM_001330578.1:c.3425C>G	NP_001317507.1:p.Thr1142Arg
NM_001330579.1:c.3407C>G	NP_001317508.1:p.Thr1136Arg
XM_005266424.4:c.3563C>G	XP_005266481.1:p.Thr1188Arg
XM_005266430.4:c.3659C>G	XP_005266487.1:p.Thr1220Arg
XM_005266431.4:c.3623C>G	XP_005266488.1:p.Thr1208Arg
XM_006719837.3:c.3563C>G	XP_006719900.1:p.Thr1188Arg
XM_011535117.3:c.3563C>G	XP_011533419.1:p.Thr1188Arg
XM_017020627.1:c.3563C>G	XP_016876116.1:p.Thr1188Arg
NM_000053.4:c.3659C>G MANE Select	NP_000044.2:p.Thr1220Arg
NM_001005918.3:c.3038C>G	NP_001005918.1:p.Thr1013Arg
NM_001330579.2:c.3407C>G	NP_001317508.1:p.Thr1136Arg
NM_001243182.2:c.3326C>G	NP_001230111.1:p.Thr1109Arg
NM_001330578.2:c.3425C>G	NP_001317507.1:p.Thr1142Arg