Canonical Allele Identifier: CA483893804

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2028334
• ClinVar RCV Id: RCV002863493
• MyVariant Identifiers: chr13:g.52513292G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939156G>C , CM000675.2:g.51939156G>C	GRCh38
NC_000013.10:g.52513292G>C , CM000675.1:g.52513292G>C	GRCh37
NC_000013.9:g.51411293G>C	NCBI36
NG_008806.1:g.77339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1244C>G	ENSP00000489512.2:n.*1244C>G
ENST00000673864.2:c.*2338C>G	ENSP00000501045.2:n.*2338C>G
ENST00000674147.2:c.2973C>G	ENSP00000500964.2:p.Val991=
ENST00000242839.10:c.3594C>G MANE Select	ENSP00000242839.5:p.Val1198=
ENST00000344297.9:c.2973C>G	ENSP00000342559.5:p.Val991=
ENST00000400366.6:c.3261C>G	ENSP00000383217.3:p.Val1087=
ENST00000448424.7:c.3342C>G	ENSP00000416738.3:p.Val1114=
ENST00000673696.1:n.835C>G
ENST00000673772.1:c.3360C>G	ENSP00000501168.1:p.Val1120=
ENST00000673867.1:n.3733C>G
ENST00000673923.1:n.460C>G
ENST00000674147.1:c.2529C>G	ENSP00000500964.1:p.Val843=
ENST00000242839.8:c.3594C>G	ENSP00000242839.4:p.Val1198=
ENST00000344297.8:c.2973C>G	ENSP00000342559.5:p.Val991=
ENST00000400366.5:c.3261C>G	ENSP00000383217.3:p.Val1087=
ENST00000400370.8:c.2304C>G	ENSP00000383221.3:p.Val768=
ENST00000418097.7:c.3399C>G	ENSP00000393343.2:p.Val1133=
ENST00000448424.6:c.3360C>G	ENSP00000416738.2:p.Val1120=
ENST00000634296.1:c.1372C>G
ENST00000634308.1:c.*695C>G	ENSP00000489234.1:n.*695C>G
ENST00000634620.1:n.4338C>G
ENST00000634810.1:n.2939C>G
ENST00000634844.1:c.3450C>G	ENSP00000489398.1:p.Val1150=
NM_000053.3:c.3594C>G	NP_000044.2:p.Val1198=
NM_001005918.2:c.2973C>G	NP_001005918.1:p.Val991=
NM_001243182.1:c.3261C>G	NP_001230111.1:p.Val1087=
XM_005266423.2:c.3498C>G	XP_005266480.1:p.Val1166=
XM_005266424.3:c.3498C>G	XP_005266481.1:p.Val1166=
XM_005266427.2:c.3360C>G	XP_005266484.1:p.Val1120=
XM_005266428.1:c.3342C>G	XP_005266485.1:p.Val1114=
XM_005266430.3:c.3594C>G	XP_005266487.1:p.Val1198=
XM_005266431.2:c.3558C>G	XP_005266488.1:p.Val1186=
XM_005266432.2:c.3108C>G	XP_005266489.1:p.Val1036=
XM_006719837.2:c.3498C>G	XP_006719900.1:p.Val1166=
XM_006719838.1:c.1410C>G	XP_006719901.1:p.Val470=
XM_006719839.1:c.1227C>G	XP_006719902.1:p.Val409=
XM_011535117.1:c.3498C>G	XP_011533419.1:p.Val1166=
XM_011535118.1:c.3459C>G	XP_011533420.1:p.Val1153=
XM_011535119.1:c.3411C>G	XP_011533421.1:p.Val1137=
XM_011535120.1:c.3180C>G	XP_011533422.1:p.Val1060=
XM_011535121.1:c.3081C>G	XP_011533423.1:p.Val1027=
XM_011535122.1:c.2262C>G	XP_011533424.1:p.Val754=
XR_941601.1:n.3813C>G
XR_941602.1:n.3813C>G
XR_941603.1:n.3813C>G
XR_941604.1:n.3813C>G
NM_001330578.1:c.3360C>G	NP_001317507.1:p.Val1120=
NM_001330579.1:c.3342C>G	NP_001317508.1:p.Val1114=
XM_005266424.4:c.3498C>G	XP_005266481.1:p.Val1166=
XM_005266430.4:c.3594C>G	XP_005266487.1:p.Val1198=
XM_005266431.4:c.3558C>G	XP_005266488.1:p.Val1186=
XM_006719837.3:c.3498C>G	XP_006719900.1:p.Val1166=
XM_011535117.3:c.3498C>G	XP_011533419.1:p.Val1166=
XM_017020627.1:c.3498C>G	XP_016876116.1:p.Val1166=
NM_000053.4:c.3594C>G MANE Select	NP_000044.2:p.Val1198=
NM_001005918.3:c.2973C>G	NP_001005918.1:p.Val991=
NM_001330579.2:c.3342C>G	NP_001317508.1:p.Val1114=
NM_001243182.2:c.3261C>G	NP_001230111.1:p.Val1087=
NM_001330578.2:c.3360C>G	NP_001317507.1:p.Val1120=