Canonical Allele Identifier: CA388021117

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511485C>A (hg19) ; chr13:g.51937349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937349C>A , CM000675.2:g.51937349C>A	GRCh38
NC_000013.10:g.52511485C>A , CM000675.1:g.52511485C>A	GRCh37
NC_000013.9:g.51409486C>A	NCBI36
NG_008806.1:g.79146G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1598G>T	ENSP00000489512.2:n.*1598G>T
ENST00000673864.2:c.*2692G>T	ENSP00000501045.2:n.*2692G>T
ENST00000674147.2:c.3327G>T	ENSP00000500964.2:p.Arg1109Ser
ENST00000242839.10:c.3948G>T MANE Select	ENSP00000242839.5:p.Arg1316Ser
ENST00000344297.9:c.3327G>T	ENSP00000342559.5:p.Arg1109Ser
ENST00000400366.6:c.3615G>T	ENSP00000383217.3:p.Arg1205Ser
ENST00000448424.7:c.3696G>T	ENSP00000416738.3:p.Arg1232Ser
ENST00000673696.1:n.1271G>T
ENST00000673772.1:c.3714G>T	ENSP00000501168.1:p.Arg1238Ser
ENST00000673867.1:n.4087G>T
ENST00000673923.1:n.814G>T
ENST00000674147.1:c.2883G>T	ENSP00000500964.1:p.Arg961Ser
ENST00000242839.8:c.3948G>T	ENSP00000242839.4:p.Arg1316Ser
ENST00000344297.8:c.3327G>T	ENSP00000342559.5:p.Arg1109Ser
ENST00000400366.5:c.3615G>T	ENSP00000383217.3:p.Arg1205Ser
ENST00000400370.8:c.2658G>T	ENSP00000383221.3:p.Arg886Ser
ENST00000418097.7:c.3753G>T	ENSP00000393343.2:p.Arg1251Ser
ENST00000448424.6:c.3714G>T	ENSP00000416738.2:p.Arg1238Ser
ENST00000634296.1:c.1726G>T
ENST00000634308.1:c.*1049G>T	ENSP00000489234.1:n.*1049G>T
ENST00000634620.1:n.4692G>T
ENST00000634810.1:n.3293G>T
ENST00000634844.1:c.3804G>T	ENSP00000489398.1:p.Arg1268Ser
NM_000053.3:c.3948G>T	NP_000044.2:p.Arg1316Ser
NM_001005918.2:c.3327G>T	NP_001005918.1:p.Arg1109Ser
NM_001243182.1:c.3615G>T	NP_001230111.1:p.Arg1205Ser
XM_005266423.2:c.3852G>T	XP_005266480.1:p.Arg1284Ser
XM_005266424.3:c.3852G>T	XP_005266481.1:p.Arg1284Ser
XM_005266427.2:c.3714G>T	XP_005266484.1:p.Arg1238Ser
XM_005266428.1:c.3696G>T	XP_005266485.1:p.Arg1232Ser
XM_005266430.3:c.3948G>T	XP_005266487.1:p.Arg1316Ser
XM_005266431.2:c.3912G>T	XP_005266488.1:p.Arg1304Ser
XM_005266432.2:c.3462G>T	XP_005266489.1:p.Arg1154Ser
XM_006719837.2:c.3852G>T	XP_006719900.1:p.Arg1284Ser
XM_006719838.1:c.1764G>T	XP_006719901.1:p.Arg588Ser
XM_006719839.1:c.1581G>T	XP_006719902.1:p.Arg527Ser
XM_011535117.1:c.3852G>T	XP_011533419.1:p.Arg1284Ser
XM_011535118.1:c.3813G>T	XP_011533420.1:p.Arg1271Ser
XM_011535119.1:c.3765G>T	XP_011533421.1:p.Arg1255Ser
XM_011535120.1:c.3534G>T	XP_011533422.1:p.Arg1178Ser
XM_011535121.1:c.3435G>T	XP_011533423.1:p.Arg1145Ser
XM_011535122.1:c.2616G>T	XP_011533424.1:p.Arg872Ser
XR_941601.1:n.4167G>T
XR_941602.1:n.4167G>T
XR_941603.1:n.4167G>T
XR_941604.1:n.4167G>T
NM_001330578.1:c.3714G>T	NP_001317507.1:p.Arg1238Ser
NM_001330579.1:c.3696G>T	NP_001317508.1:p.Arg1232Ser
XM_005266424.4:c.3852G>T	XP_005266481.1:p.Arg1284Ser
XM_005266430.4:c.3948G>T	XP_005266487.1:p.Arg1316Ser
XM_005266431.4:c.3912G>T	XP_005266488.1:p.Arg1304Ser
XM_006719837.3:c.3852G>T	XP_006719900.1:p.Arg1284Ser
XM_011535117.3:c.3852G>T	XP_011533419.1:p.Arg1284Ser
XM_017020627.1:c.3852G>T	XP_016876116.1:p.Arg1284Ser
NM_000053.4:c.3948G>T MANE Select	NP_000044.2:p.Arg1316Ser
NM_001005918.3:c.3327G>T	NP_001005918.1:p.Arg1109Ser
NM_001330579.2:c.3696G>T	NP_001317508.1:p.Arg1232Ser
NM_001243182.2:c.3615G>T	NP_001230111.1:p.Arg1205Ser
NM_001330578.2:c.3714G>T	NP_001317507.1:p.Arg1238Ser