Canonical Allele Identifier: CA483893819

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1081274
• ClinVar RCV Id: RCV001397220
• dbSNP Id: rs761183334
• gnomAD v3: 13-51939168-G-T
• gnomAD v4: 13-51939168-G-T
• MyVariant Identifiers: chr13:g.52513304G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939168G>T , CM000675.2:g.51939168G>T	GRCh38
NC_000013.10:g.52513304G>T , CM000675.1:g.52513304G>T	GRCh37
NC_000013.9:g.51411305G>T	NCBI36
NG_008806.1:g.77327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1232C>A	ENSP00000489512.2:n.*1232C>A
ENST00000673864.2:c.*2326C>A	ENSP00000501045.2:n.*2326C>A
ENST00000674147.2:c.2961C>A	ENSP00000500964.2:p.Ile987=
ENST00000242839.10:c.3582C>A MANE Select	ENSP00000242839.5:p.Ile1194=
ENST00000344297.9:c.2961C>A	ENSP00000342559.5:p.Ile987=
ENST00000400366.6:c.3249C>A	ENSP00000383217.3:p.Ile1083=
ENST00000448424.7:c.3330C>A	ENSP00000416738.3:p.Ile1110=
ENST00000673696.1:n.823C>A
ENST00000673772.1:c.3348C>A	ENSP00000501168.1:p.Ile1116=
ENST00000673867.1:n.3721C>A
ENST00000673923.1:n.448C>A
ENST00000674147.1:c.2517C>A	ENSP00000500964.1:p.Ile839=
ENST00000242839.8:c.3582C>A	ENSP00000242839.4:p.Ile1194=
ENST00000344297.8:c.2961C>A	ENSP00000342559.5:p.Ile987=
ENST00000400366.5:c.3249C>A	ENSP00000383217.3:p.Ile1083=
ENST00000400370.8:c.2292C>A	ENSP00000383221.3:p.Ile764=
ENST00000418097.7:c.3387C>A	ENSP00000393343.2:p.Ile1129=
ENST00000448424.6:c.3348C>A	ENSP00000416738.2:p.Ile1116=
ENST00000634296.1:c.1360C>A
ENST00000634308.1:c.*683C>A	ENSP00000489234.1:n.*683C>A
ENST00000634620.1:n.4326C>A
ENST00000634810.1:n.2927C>A
ENST00000634844.1:c.3438C>A	ENSP00000489398.1:p.Ile1146=
NM_000053.3:c.3582C>A	NP_000044.2:p.Ile1194=
NM_001005918.2:c.2961C>A	NP_001005918.1:p.Ile987=
NM_001243182.1:c.3249C>A	NP_001230111.1:p.Ile1083=
XM_005266423.2:c.3486C>A	XP_005266480.1:p.Ile1162=
XM_005266424.3:c.3486C>A	XP_005266481.1:p.Ile1162=
XM_005266427.2:c.3348C>A	XP_005266484.1:p.Ile1116=
XM_005266428.1:c.3330C>A	XP_005266485.1:p.Ile1110=
XM_005266430.3:c.3582C>A	XP_005266487.1:p.Ile1194=
XM_005266431.2:c.3546C>A	XP_005266488.1:p.Ile1182=
XM_005266432.2:c.3096C>A	XP_005266489.1:p.Ile1032=
XM_006719837.2:c.3486C>A	XP_006719900.1:p.Ile1162=
XM_006719838.1:c.1398C>A	XP_006719901.1:p.Ile466=
XM_006719839.1:c.1215C>A	XP_006719902.1:p.Ile405=
XM_011535117.1:c.3486C>A	XP_011533419.1:p.Ile1162=
XM_011535118.1:c.3447C>A	XP_011533420.1:p.Ile1149=
XM_011535119.1:c.3399C>A	XP_011533421.1:p.Ile1133=
XM_011535120.1:c.3168C>A	XP_011533422.1:p.Ile1056=
XM_011535121.1:c.3069C>A	XP_011533423.1:p.Ile1023=
XM_011535122.1:c.2250C>A	XP_011533424.1:p.Ile750=
XR_941601.1:n.3801C>A
XR_941602.1:n.3801C>A
XR_941603.1:n.3801C>A
XR_941604.1:n.3801C>A
NM_001330578.1:c.3348C>A	NP_001317507.1:p.Ile1116=
NM_001330579.1:c.3330C>A	NP_001317508.1:p.Ile1110=
XM_005266424.4:c.3486C>A	XP_005266481.1:p.Ile1162=
XM_005266430.4:c.3582C>A	XP_005266487.1:p.Ile1194=
XM_005266431.4:c.3546C>A	XP_005266488.1:p.Ile1182=
XM_006719837.3:c.3486C>A	XP_006719900.1:p.Ile1162=
XM_011535117.3:c.3486C>A	XP_011533419.1:p.Ile1162=
XM_017020627.1:c.3486C>A	XP_016876116.1:p.Ile1162=
NM_000053.4:c.3582C>A MANE Select	NP_000044.2:p.Ile1194=
NM_001005918.3:c.2961C>A	NP_001005918.1:p.Ile987=
NM_001330579.2:c.3330C>A	NP_001317508.1:p.Ile1110=
NM_001243182.2:c.3249C>A	NP_001230111.1:p.Ile1083=
NM_001330578.2:c.3348C>A	NP_001317507.1:p.Ile1116=