Canonical Allele Identifier: CA483893103

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509806C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935670C>A , CM000675.2:g.51935670C>A	GRCh38
NC_000013.10:g.52509806C>A , CM000675.1:g.52509806C>A	GRCh37
NC_000013.9:g.51407807C>A	NCBI36
NG_008806.1:g.80825G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1697G>T	ENSP00000489512.2:n.*1697G>T
ENST00000673864.2:c.*2791G>T	ENSP00000501045.2:n.*2791G>T
ENST00000674147.2:c.3426G>T	ENSP00000500964.2:p.Val1142=
ENST00000242839.10:c.4047G>T MANE Select	ENSP00000242839.5:p.Val1349=
ENST00000344297.9:c.3426G>T	ENSP00000342559.5:p.Val1142=
ENST00000400366.6:c.3714G>T	ENSP00000383217.3:p.Val1238=
ENST00000448424.7:c.3795G>T	ENSP00000416738.3:p.Val1265=
ENST00000673696.1:n.1370G>T
ENST00000673772.1:c.3813G>T	ENSP00000501168.1:p.Val1271=
ENST00000673867.1:n.4186G>T
ENST00000673923.1:n.913G>T
ENST00000674147.1:c.2982G>T	ENSP00000500964.1:p.Val994=
ENST00000242839.8:c.4047G>T	ENSP00000242839.4:p.Val1349=
ENST00000344297.8:c.3426G>T	ENSP00000342559.5:p.Val1142=
ENST00000400366.5:c.3714G>T	ENSP00000383217.3:p.Val1238=
ENST00000400370.8:c.2757G>T	ENSP00000383221.3:p.Val919=
ENST00000418097.7:c.3852G>T	ENSP00000393343.2:p.Val1284=
ENST00000448424.6:c.3813G>T	ENSP00000416738.2:p.Val1271=
ENST00000634296.1:c.1825G>T
ENST00000634308.1:c.*1148G>T	ENSP00000489234.1:n.*1148G>T
ENST00000634620.1:n.4791G>T
ENST00000634810.1:n.3392G>T
ENST00000634844.1:c.3903G>T	ENSP00000489398.1:p.Val1301=
NM_000053.3:c.4047G>T	NP_000044.2:p.Val1349=
NM_001005918.2:c.3426G>T	NP_001005918.1:p.Val1142=
NM_001243182.1:c.3714G>T	NP_001230111.1:p.Val1238=
XM_005266423.2:c.3951G>T	XP_005266480.1:p.Val1317=
XM_005266424.3:c.3951G>T	XP_005266481.1:p.Val1317=
XM_005266427.2:c.3813G>T	XP_005266484.1:p.Val1271=
XM_005266428.1:c.3795G>T	XP_005266485.1:p.Val1265=
XM_005266430.3:c.4047G>T	XP_005266487.1:p.Val1349=
XM_005266431.2:c.4011G>T	XP_005266488.1:p.Val1337=
XM_005266432.2:c.3561G>T	XP_005266489.1:p.Val1187=
XM_006719837.2:c.3951G>T	XP_006719900.1:p.Val1317=
XM_006719838.1:c.1863G>T	XP_006719901.1:p.Val621=
XM_006719839.1:c.1680G>T	XP_006719902.1:p.Val560=
XM_011535117.1:c.3951G>T	XP_011533419.1:p.Val1317=
XM_011535118.1:c.3912G>T	XP_011533420.1:p.Val1304=
XM_011535119.1:c.3864G>T	XP_011533421.1:p.Val1288=
XM_011535120.1:c.3633G>T	XP_011533422.1:p.Val1211=
XM_011535121.1:c.3534G>T	XP_011533423.1:p.Val1178=
XM_011535122.1:c.2715G>T	XP_011533424.1:p.Val905=
XR_941601.1:n.4266G>T
XR_941602.1:n.4266G>T
XR_941603.1:n.4266G>T
XR_941604.1:n.4266G>T
NM_001330578.1:c.3813G>T	NP_001317507.1:p.Val1271=
NM_001330579.1:c.3795G>T	NP_001317508.1:p.Val1265=
XM_005266424.4:c.3951G>T	XP_005266481.1:p.Val1317=
XM_005266430.4:c.4047G>T	XP_005266487.1:p.Val1349=
XM_005266431.4:c.4011G>T	XP_005266488.1:p.Val1337=
XM_006719837.3:c.3951G>T	XP_006719900.1:p.Val1317=
XM_011535117.3:c.3951G>T	XP_011533419.1:p.Val1317=
XM_017020627.1:c.3951G>T	XP_016876116.1:p.Val1317=
NM_000053.4:c.4047G>T MANE Select	NP_000044.2:p.Val1349=
NM_001005918.3:c.3426G>T	NP_001005918.1:p.Val1142=
NM_001330579.2:c.3795G>T	NP_001317508.1:p.Val1265=
NM_001243182.2:c.3714G>T	NP_001230111.1:p.Val1238=
NM_001330578.2:c.3813G>T	NP_001317507.1:p.Val1271=